R51K (p.Arg51Lys) variant of XRCC3 (DNA repair protein XRCC3)
R51K (p.Arg51Lys) 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 0.17 / 1. The record also includes population frequency data and structural context.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- rs762734728
- ClinGen CA7366630
- ClinVar RCV004120622
- ExAC rs762734728
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.04
- CADD 4.22
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available