A64E (p.Ala64Glu) variant of OCA2 (P protein)
A64E (p.Ala64Glu) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
A64E (p.Ala64Glu) variant details
- p.Ala64Glu
- Ensembl rs200249320
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.65
- CADD 0.96
- Structural context available