R81H (p.Arg81His) variant of XRCC3 (DNA repair protein XRCC3)
R81H (p.Arg81His) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data and structural context.
R81H (p.Arg81His) variant details
- p.Arg81His
- cosmic curated COSV10943
- gnomAD rs1437944587
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.21
- CADD 23.40
- PolyPhen-2 0.29
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available