R7W (p.Arg7Trp) variant of XRCC2 (DNA repair protein XRCC2)
R7W (p.Arg7Trp) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- gnomAD rs1337184659
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.21
- AlphaMissense 0.14
- MetaLR 0.11
- MetaSVM -1.04
- CADD 23.40
- PolyPhen-2 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available