C20G (p.Cys20Gly) variant of PTCH1 (Protein patched homolog 1)
C20G (p.Cys20Gly) 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 0.40 / 1. The record also includes published literature and structural context.
C20G (p.Cys20Gly) variant details
- p.Cys20Gly
- rs1843905982
- ClinGen CA374121500
- ClinVar RCV002355707
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.07
- MetaLR 0.29
- MetaSVM -0.78
- PolyPhen-2 0.01
- SIFT 0.62
- MutPred 0.29
- ClinVar: Uncertain significance (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)