E16A (p.Glu16Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
E16A (p.Glu16Ala) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E16A (p.Glu16Ala) variant details
- p.Glu16Ala
- rs745771647
- ClinGen CA038939
- cosmic curated COSV51884
- ClinVar RCV000484013
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.82
- MetaSVM 0.72
- CADD 32.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)
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