G131R (p.Gly131Arg) variant of XRCC3 (DNA repair protein XRCC3)
G131R (p.Gly131Arg) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G131R (p.Gly131Arg) variant details
- p.Gly131Arg
- rs750840706
- ClinGen CA7366566
- cosmic curated COSV10526
- ClinVar RCV004338535
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.68
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available