V34M (p.Val34Met) variant of ERCC4 (DNA repair endonuclease XPF)
V34M (p.Val34Met) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cockayne syndrome; Fanconi anemia complementation group Q; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- rs61731714
- ClinGen CA394816150
- ClinVar RCV003154735
- ClinVar RCV003778920
- Conflicting interpretations
- Cockayne syndrome; Fanconi anemia complementation group Q; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.46
- CADD 28.50
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cockayne syndrome; Fanconi anemia complementation group Q; Xerod)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)