Q21E (p.Gln21Glu) variant of ERCC4 (DNA repair endonuclease XPF)
Q21E (p.Gln21Glu) 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 population frequency data, published literature, and structural context.
Q21E (p.Gln21Glu) variant details
- p.Gln21Glu
- rs748499820
- ClinGen CA7910075
- cosmic curated COSV61311
- ClinVar RCV000334401
- Uncertain significance
- Fanconi anemia complementation group Q; Xeroderma pigmentosum, group F; Cockayne
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (Fanconi anemia complementation group Q; Xeroderma pigmentosum, g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)