A62V (p.Ala62Val) variant of OCA2 (P protein)
A62V (p.Ala62Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- gnomAD rs1209695913
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.34
- MetaSVM -0.68
- CADD 0.35
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available