Query A0A3Q1MQ87 T318P
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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 | ||||||||||||||
X | 38323425 | C | T | RPGR | gGa/gAa(-) | 23.8 | canQ92834 | X-linked retinitis pigmentosa GTPase regulator | 43 | Gly/Glu | missense | 0.99 |