E7A (p.Glu7Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
E7A (p.Glu7Ala) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E7A (p.Glu7Ala) variant details
- p.Glu7Ala
- rs530071578
- ClinGen CA46666467
- ClinVar RCV000580313
- ClinVar RCV000698385
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.50
- MetaSVM -0.27
- CADD 23.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- 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)