M1T (p.Met1Thr) variant of ERCC2 (P18074)
M1T (p.Met1Thr) in ERCC2 (P18074) 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 0.46 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs764073718
- ClinGen CA9513993
- ClinVar RCV002042671
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- MetaLR 0.52
- MetaSVM -0.03
- PolyPhen-2 0.20
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available