L270P (p.Leu270Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
L270P (p.Leu270Pro) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lynch syndrome 1; Hereditary nonpolyposis colorectal neoplasms; Hereditary cance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
L270P (p.Leu270Pro) variant details
- p.Leu270Pro
- rs1573451078
- ClinGen CA346732763
- ClinVar RCV001027174
- ClinVar RCV001066735
- Pathogenic/Likely pathogenic
- Lynch syndrome 1; Hereditary nonpolyposis colorectal neoplasms; Hereditary cance
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Lynch syndrome 1; Hereditary nonpolyposis colorectal neoplasms;)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)