H117Y (p.His117Tyr) variant of OCA2 (P protein)
H117Y (p.His117Tyr) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
H117Y (p.His117Tyr) variant details
- p.His117Tyr
- Ensembl rs2042808588
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM 0.07
- CADD 15.29
- Structural context available