R76K (p.Arg76Lys) variant of OCA2 (P protein)
R76K (p.Arg76Lys) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
R76K (p.Arg76Lys) variant details
- p.Arg76Lys
- rs1367553457
- ClinGen CA391366514
- cosmic curated COSV62359
- ClinVar RCV002861434
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.82
- MetaSVM 0.28
- CADD 25.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available