R9L (p.Arg9Leu) variant of ERCC4 (DNA repair endonuclease XPF)
R9L (p.Arg9Leu) 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 0.04 / 1. The record also includes population frequency data and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD rs1214498950
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0435
- REVEL 0.03
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available