R8L (p.Arg8Leu) variant of ERCC4 (DNA repair endonuclease XPF)
R8L (p.Arg8Leu) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- ExAC rs759843019
- TOPMed rs759843019
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.09
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available