R53W (p.Arg53Trp) variant of OCA2 (P protein)
R53W (p.Arg53Trp) 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 0.21 / 1. The record also includes population frequency data and structural context.
R53W (p.Arg53Trp) variant details
- p.Arg53Trp
- rs761810483
- ClinGen CA391366656
- ClinVar RCV002624107
- ExAC rs761810483
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.51
- MetaSVM -0.48
- CADD 1.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available