R128W (p.Arg128Trp) variant of XRCC3 (DNA repair protein XRCC3)
R128W (p.Arg128Trp) 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 0.28 / 1. The record also includes population frequency data and structural context.
R128W (p.Arg128Trp) variant details
- p.Arg128Trp
- rs377685108
- ClinGen CA7366571
- ClinVar RCV004187855
- ESP rs377685108
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.06
- CADD 19.50
- PolyPhen-2 0.85
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00038)
- Structural context available