R76W (p.Arg76Trp) variant of OCA2 (P protein)
R76W (p.Arg76Trp) 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 0.48 / 1. The record also includes population frequency data and structural context.
R76W (p.Arg76Trp) variant details
- p.Arg76Trp
- rs147785669
- ClinGen CA7439549
- ClinVar RCV003073467
- ClinVar RCV004744578
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.86
- MetaSVM 0.32
- CADD 24.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available