S1132F (p.Ser1132Phe) variant of PTCH1 (Protein patched homolog 1)
S1132F (p.Ser1132Phe) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S1132F (p.Ser1132Phe) variant details
- p.Ser1132Phe
- rs1588528503
- ClinGen CA374111756
- ClinVar RCV000800312
- ClinVar RCV001815437
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.93
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Gorlin sy)
- EBI: Pathogenic (in BCNS1)
- UniProt: Pathogenic (in BCNS1)
- 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)