M1V (p.Met1Val) variant of ERCC2 (P18074)
M1V (p.Met1Val) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The record also includes variant effect predictions, population frequency data, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs757252017
- ClinGen CA9513995
- ClinVar RCV002240084
- ClinVar RCV003093916
- Uncertain significance
- not specified; not provided
- Missense
- MetaLR 0.45
- MetaSVM -0.32
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available