P15L (p.Pro15Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
P15L (p.Pro15Leu) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- rs869312800
- ClinGen CA357811
- ClinVar RCV000210179
- ClinVar RCV000791386
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- MetaLR 0.39
- MetaSVM -0.23
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)