E2Q (p.Glu2Gln) variant of ERCC4 (DNA repair endonuclease XPF)
E2Q (p.Glu2Gln) 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 0.27 / 1. The record also includes published literature and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs373789508
- ClinGen CA394815748
- ClinVar RCV001219171
- ESP rs373789508
- Uncertain significance
- Fanconi anemia complementation group Q; Xeroderma pigmentosum, group F; Cockayne
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- AlphaMissense 0.14
- MetaLR 0.12
- MetaSVM -0.97
- PolyPhen-2 0.18
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi anemia complementation group Q; Xeroderma pigmentosum, g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)