A14T (p.Ala14Thr) variant of MSH2 (DNA mismatch repair protein Msh2)
A14T (p.Ala14Thr) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs876658277
- ClinGen CA10577913
- ClinVar RCV000216179
- ClinVar RCV000558623
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.48
- MetaSVM -0.38
- CADD 23.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.02)
- 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)