G54V (p.Gly54Val) variant of OCA2 (P protein)
G54V (p.Gly54Val) 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.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- gnomAD rs965907142
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.61
- MetaSVM -0.26
- CADD 1.07
- Structural context available