K29* (p.Lys29Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
K29* (p.Lys29Ter) in MSH2 (DNA mismatch repair protein Msh2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K29* (p.Lys29Ter) variant details
- p.Lys29Ter
- rs1060502001
- ClinGen CA16610843
- ClinVar RCV000467909
- ClinVar RCV004017628
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.95
- MetaLR 0.79
- MetaSVM 0.64
- CADD 44.00
- PolyPhen-2 0.97
- SIFT 0.11
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)