A20D (p.Ala20Asp) variant of MSH6 (DNA mismatch repair protein Msh6)
A20D (p.Ala20Asp) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- rs63750664
- ClinGen CA073139
- ClinVar RCV002357942
- 1000Genomes rs63750664
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.19
- MetaLR 0.33
- MetaSVM -0.86
- CADD 13.40
- PolyPhen-2 0.02
- SIFT 0.49
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign (in LYNCH5, CRC and ENDMC)
- UniProt: Benign (in LYNCH5, CRC and ENDMC)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)