P6A (p.Pro6Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
P6A (p.Pro6Ala) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- rs374904719
- ClinGen CA360264783
- ClinVar RCV001976158
- ClinVar RCV005370099
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.12
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)