E119A (p.Glu119Ala) variant of OCA2 (P protein)
E119A (p.Glu119Ala) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
E119A (p.Glu119Ala) variant details
- p.Glu119Ala
- TOPMed rs2042808316
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.66
- MetaSVM -0.10
- CADD 10.70
- Structural context available