G22S (p.Gly22Ser) variant of PTCH1 (Protein patched homolog 1)
G22S (p.Gly22Ser) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- rs1843904468
- ClinGen CA374121488
- ClinVar RCV003296230
- gnomAD rs1843904468
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.20
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)