R9W (p.Arg9Trp) variant of ERCC4 (DNA repair endonuclease XPF)
R9W (p.Arg9Trp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- cosmic curated COSV61314
- TOPMed rs1326609617
- gnomAD rs1326609617
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.14
- CADD 15.70
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available