K29E (p.Lys29Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
K29E (p.Lys29Glu) 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 Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- rs1060502001
- ClinGen CA346728707
- ClinVar RCV001035991
- Ensembl rs1060502001
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.79
- MetaSVM 0.64
- PolyPhen-2 0.97
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available