R9Q (p.Arg9Gln) variant of ERCC4 (DNA repair endonuclease XPF)
R9Q (p.Arg9Gln) in ERCC4 (DNA repair endonuclease XPF) 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 0.03 / 1. The record also includes population frequency data and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- gnomAD rs1214498950
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0327
- REVEL 0.01
- CADD 0.07
- PolyPhen-2 0.01
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available