M1L (p.Met1Leu) variant of MSH3 (DNA mismatch repair protein Msh3)
M1L (p.Met1Leu) in MSH3 (DNA mismatch repair protein Msh3) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs775714088
- ClinGen CA3327412
- ClinVar RCV000821779
- ClinVar RCV001013981
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- MetaLR 0.73
- MetaSVM 0.48
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)