Query Q9H8H0 T659N
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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 | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||||||||||||||
22 | 37519178 | C | T | CARD10 | gGg/gAg(-) | 18.0 | canQ9BWT7 | Caspase recruitment domain-containing protein 10 | 8 | Gly/Glu | missense | 0.10 |