P349R (p.Pro349Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
P349R (p.Pro349Arg) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
P349R (p.Pro349Arg) variant details
- p.Pro349Arg
- rs587779067
- ClinGen CA016981
- ClinVar RCV000076008
- ClinVar RCV000490568
- Uncertain significance
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic (in LYNCH1)
- UniProt: Pathogenic (in LYNCH1)
- 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)