A42V (p.Ala42Val) variant of OCA2 (P protein)
A42V (p.Ala42Val) 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.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- gnomAD rs867371205
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.37
- MetaSVM -0.52
- CADD 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available