V33A (p.Val33Ala) variant of ERCC4 (DNA repair endonuclease XPF)
V33A (p.Val33Ala) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V33A (p.Val33Ala) variant details
- p.Val33Ala
- rs1287910269
- ClinGen CA394816145
- cosmic curated COSV10885
- ClinVar RCV002258703
- Uncertain significance
- Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.19
- CADD 25.20
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemi)
- EBI: Variant of uncertain significance (in dbSNP:rs34205098)
- UniProt: Uncertain significance (in dbSNP:rs34205098)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)