R76G (p.Arg76Gly) variant of OCA2 (P protein)
R76G (p.Arg76Gly) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
R76G (p.Arg76Gly) variant details
- p.Arg76Gly
- ESP rs147785669
- ExAC rs147785669
- TOPMed rs147785669
- gnomAD rs147785669
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.73
- MetaSVM 0.17
- CADD 20.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available