G107R (p.Gly107Arg) variant of XRCC3 (DNA repair protein XRCC3)
G107R (p.Gly107Arg) 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 0.82 / 1. The record also includes population frequency data and structural context.
G107R (p.Gly107Arg) variant details
- p.Gly107Arg
- rs753331169
- ClinGen CA7366586
- ClinVar RCV004197041
- ExAC rs753331169
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.86
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available