G34D (p.Gly34Asp) variant of OCA2 (P protein)
G34D (p.Gly34Asp) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- Ensembl rs867457274
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.41
- CADD 11.58
- Structural context available