G15S (p.Gly15Ser) variant of PTCH1 (Protein patched homolog 1)
G15S (p.Gly15Ser) 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 PTCH1-related disorder; Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs1240000266
- ClinGen CA374121556
- ClinVar RCV001059885
- TOPMed rs1240000266
- Uncertain significance
- PTCH1-related disorder; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (PTCH1-related disorder; Gorlin syndrome; Hereditary cancer-predi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)