Query Q8N183 F138L
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Table Legends
CADD phred-like score
<15.0 likely benign
15.0-19.9 potentially deleterious
20.0-24.9 quite likely deleterious
25.0-29.9 probably deleterious
>29.9 highly likely deleterious
Residue conservation
Low High
AlphaMissense score
benign
ambiguous
pathogenic
ESM1b LLR score
0 -5 -10 -15 -20 -25
EVE score
benign
uncertain
pathogenic
Annotations
Functional Information
Population Observation
Structures
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GENOMIC | PROTEIN | ANNOTATIONS | ||||||||||||
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Chr. | Coordinate | ID | Ref. | Alt. | Gene | Codon (strand) | CADD | Isoform | Protein name | AA pos. | AA change | Consequence(s) | AlphaMiss. pred. | Click for details |
1 protein input | ||||||||||||||
5 | 60945256 | A | C | NDUFAF2 | Aug/Cug(+) | 22.1 | canQ8N183 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 | 1 | Met/Leu | missense | 0.16 | ||
5 | 60945256 | A | T | NDUFAF2 | Aug/Uug(+) | 22.1 | canQ8N183 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 | 1 | Met/Leu | missense | 0.16 |