K6E (p.Lys6Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
K6E (p.Lys6Glu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- rs777351049
- ClinGen CA030563
- ClinVar RCV000538201
- ClinVar RCV000562322
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.56
- MetaSVM 0.05
- CADD 23.60
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TUSCAN 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)