R74Q (p.Arg74Gln) variant of XRCC3 (DNA repair protein XRCC3)
R74Q (p.Arg74Gln) 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 0.04 / 1. The record also includes population frequency data and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs372383657
- ClinGen CA7366601
- cosmic curated COSV99068
- ClinVar RCV004206251
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0388
- REVEL 0.02
- CADD 0.15
- PolyPhen-2 0.13
- SIFT 0.59
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available