R8Q (p.Arg8Gln) variant of ERCC4 (DNA repair endonuclease XPF)
R8Q (p.Arg8Gln) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q; Cockayne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- ExAC rs759843019
- TOPMed rs759843019
- gnomAD rs759843019
- Uncertain significance
- Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q; Cockayne
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.08
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Fanconi anemia complementation g)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available