R94H (p.Arg94His) variant of XRCC3 (DNA repair protein XRCC3)
R94H (p.Arg94His) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R94H (p.Arg94His) variant details
- p.Arg94His
- rs3212057
- ClinGen CA7366593
- cosmic curated COSV10967
- ClinVar RCV001819298
- Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.08
- CADD 15.30
- PolyPhen-2 0.12
- SIFT 0.07
- ClinVar: Likely benign (not specified; not provided)
- EBI: Likely benign (in dbSNP:rs3212057)
- UniProt: Likely benign (in dbSNP:rs3212057)
- Most common in the 1KG:ESN population (allele frequency 0.039)
- Structural context available
- Literature evidence available