R53G (p.Arg53Gly) variant of OCA2 (P protein)
R53G (p.Arg53Gly) 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 0.26 / 1. The record also includes population frequency data and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- rs761810483
- ClinGen CA7439565
- ClinVar RCV002653233
- ExAC rs761810483
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.35
- MetaSVM -0.64
- CADD 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available