R74W (p.Arg74Trp) variant of XRCC3 (DNA repair protein XRCC3)
R74W (p.Arg74Trp) 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 0.19 / 1. The record also includes population frequency data and structural context.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs1250428018
- ClinGen CA391138513
- ClinVar RCV001819304
- TOPMed rs1250428018
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.18
- CADD 16.80
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available