G17R (p.Gly17Arg) variant of PTCH1 (Protein patched homolog 1)
G17R (p.Gly17Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs1217844666
- ClinGen CA374121526
- ClinVar RCV001023390
- ClinVar RCV004761878
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.25
- MetaLR 0.45
- MetaSVM -0.66
- PolyPhen-2 0.21
- SIFT 0.01
- MutPred 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)