R33H (p.Arg33His) variant of PTCH1 (Protein patched homolog 1)
R33H (p.Arg33His) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- rs2118908774
- ClinGen CA374121430
- ClinVar RCV002387459
- ClinVar RCV005601906
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.37
- AlphaMissense 0.30
- MetaLR 0.52
- MetaSVM -0.16
- CADD 23.70
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (not provided; 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)