G44V (p.Gly44Val) variant of OCA2 (P protein)
G44V (p.Gly44Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- TOPMed rs1198832011
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.53
- CADD 0.74
- Structural context available