R37S (p.Arg37Ser) variant of ERCC4 (DNA repair endonuclease XPF)
R37S (p.Arg37Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- 1000Genomes rs144602005
- ESP rs144602005
- ExAC rs144602005
- TOPMed rs144602005
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.13
- CADD 24.10
- PolyPhen-2 0.05
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available