M12V (p.Met12Val) variant of ERCC4 (DNA repair endonuclease XPF)
M12V (p.Met12Val) 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 XFE progeroid syndrome; Xeroderma pigmentosum, group F; Fanconi anemia complemen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M12V (p.Met12Val) variant details
- p.Met12Val
- rs750358005
- ClinGen CA7910069
- ClinVar RCV003062927
- ClinVar RCV005019613
- Uncertain significance
- XFE progeroid syndrome; Xeroderma pigmentosum, group F; Fanconi anemia complemen
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.19
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (XFE progeroid syndrome; Xeroderma pigmentosum, group F; Fanconi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)