M1V (p.Met1Val) variant of ERCC4 (DNA repair endonuclease XPF)
M1V (p.Met1Val) 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. 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs543978998
- ClinGen CA394815713
- ClinVar RCV003154575
- Uncertain significance
- Fanconi anemia complementation group Q
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- MetaLR 0.10
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Fanconi anemia complementation group Q)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)