P6L (p.Pro6Leu) variant of MSH3 (DNA mismatch repair protein Msh3)
P6L (p.Pro6Leu) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs2546709769
- ClinGen CA360264788
- ClinVar RCV002890876
- ClinVar RCV004642058
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.08
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)