A20T (p.Ala20Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
A20T (p.Ala20Thr) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs1439274983
- ClinGen CA346734564
- ClinVar RCV004520735
- gnomAD rs1439274983
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.09
- MetaLR 0.28
- MetaSVM -0.90
- CADD 5.36
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign (in LYNCH5, CRC and ENDMC)
- UniProt: Likely benign (in LYNCH5, CRC and ENDMC)
- Population evidence available
- 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)