M1L (p.Met1Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
M1L (p.Met1Leu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs267607911
- ClinGen CA019685
- ClinVar RCV000076334
- ClinVar RCV000160588
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)