A56V (p.Ala56Val) variant of OCA2 (P protein)
A56V (p.Ala56Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- TOPMed rs867941204
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM -0.43
- CADD 5.64
- Structural context available