P18R (p.Pro18Arg) variant of MSH3 (DNA mismatch repair protein Msh3)
P18R (p.Pro18Arg) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- rs1749189883
- ClinGen CA360265141
- ClinVar RCV001324727
- ClinVar RCV002350599
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.11
- MetaLR 0.44
- MetaSVM -0.57
- PolyPhen-2 0.43
- SIFT 0.00
- MutPred 0.28
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)