E25Q (p.Glu25Gln) variant of ERCC4 (DNA repair endonuclease XPF)
E25Q (p.Glu25Gln) 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 Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q; Cockayne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E25Q (p.Glu25Gln) variant details
- p.Glu25Gln
- rs560047653
- ClinGen CA394816053
- ClinVar RCV003800214
- Uncertain significance
- Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q; Cockayne
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.11
- CADD 27.40
- PolyPhen-2 0.53
- SIFT 0.01
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Fanconi anemia complementation g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)