M1T (p.Met1Thr) variant of ERCC4 (DNA repair endonuclease XPF)
M1T (p.Met1Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs778859873
- ClinGen CA394815723
- ClinVar RCV001774849
- Uncertain significance
- not provided
- 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 (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available