Q24E (p.Gln24Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
Q24E (p.Gln24Glu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q24E (p.Gln24Glu) variant details
- p.Gln24Glu
- rs587779976
- ClinGen CA346728646
- ClinVar RCV000560638
- ClinVar RCV000777268
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.46
- MetaSVM -0.50
- CADD 18.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- 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)