V32A (p.Val32Ala) variant of OCA2 (P protein)
V32A (p.Val32Ala) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
V32A (p.Val32Ala) variant details
- p.Val32Ala
- Ensembl rs2141898072
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.40
- MetaSVM -0.63
- CADD 0.23
- Structural context available