A64V (p.Ala64Val) variant of OCA2 (P protein)
A64V (p.Ala64Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- Ensembl rs200249320
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.39
- MetaSVM -0.68
- CADD 0.41
- Structural context available