M1R (p.Met1Arg) variant of ERCC4 (DNA repair endonuclease XPF)
M1R (p.Met1Arg) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs778859873
- ClinGen CA7910052
- ClinVar RCV002957387
- Uncertain significance
- Fanconi anemia complementation group Q; Xeroderma pigmentosum, group F; Cockayne
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- MetaLR 0.15
- MetaSVM -0.83
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.97
- ClinVar: Uncertain significance (Fanconi anemia complementation group Q; Xeroderma pigmentosum, g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)