A1055P (p.Ala1055Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
A1055P (p.Ala1055Pro) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A1055P (p.Ala1055Pro) variant details
- p.Ala1055Pro
- rs587779254
- ClinGen CA011702
- ClinVar RCV000114751
- ClinVar RCV000223291
- Likely pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.93
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Lynch syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)