A7V (p.Ala7Val) variant of ERCC4 (DNA repair endonuclease XPF)
A7V (p.Ala7Val) 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; Cockayne syndrome; Fanconi anemia complementatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs1319883296
- ClinGen CA394815849
- ClinVar RCV003016417
- TOPMed rs1319883296
- Uncertain significance
- Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.04
- CADD 17.10
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)