A11V (p.Ala11Val) variant of ERCC4 (DNA repair endonuclease XPF)
A11V (p.Ala11Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group Q; Xeroderma pigmentosum, group F; Cockayne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs753596005
- ClinGen CA7910066
- ClinVar RCV001220164
- ExAC rs753596005
- Uncertain significance
- Fanconi anemia complementation group Q; Xeroderma pigmentosum, group F; Cockayne
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.07
- CADD 20.70
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi anemia complementation group Q; Xeroderma pigmentosum, g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)