R32M (p.Arg32Met) variant of PTCH1 (Protein patched homolog 1)
R32M (p.Arg32Met) in PTCH1 (Protein patched homolog 1) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R32M (p.Arg32Met) variant details
- p.Arg32Met
- rs746923835
- ClinGen CA374121437
- ClinVar RCV003310891
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.31
- CADD 22.20
- PolyPhen-2 0.13
- SIFT 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)