A2E (p.Ala2Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
A2E (p.Ala2Glu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LYNCH1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- rs587778521
- ClinGen CA021542
- cosmic curated COSV10508
- ClinVar RCV000165871
- Uncertain significance
- in LYNCH1
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.79
- MetaSVM 0.75
- CADD 24.70
- EBI: Variant of uncertain significance (in LYNCH1)
- UniProt: Uncertain significance (in LYNCH1)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- 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)