A1154V (p.Ala1154Val) variant of MSH6 (DNA mismatch repair protein Msh6)
A1154V (p.Ala1154Val) 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 nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A1154V (p.Ala1154Val) variant details
- p.Ala1154Val
- rs786202842
- ClinGen CA346760043
- ClinVar RCV002460225
- ClinVar RCV003594193
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; not provided; Here)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)