G19C (p.Gly19Cys) variant of PTCH1 (Protein patched homolog 1)
G19C (p.Gly19Cys) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- rs778460384
- ClinGen CA374121505
- ClinVar RCV003382202
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.37
- CADD 22.80
- PolyPhen-2 0.54
- SIFT 0.02
- 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)