S18C (p.Ser18Cys) variant of PTCH1 (Protein patched homolog 1)
S18C (p.Ser18Cys) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- rs1199437529
- ClinGen CA374121511
- ClinVar RCV002655028
- TOPMed rs1199437529
- Benign
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.24
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Benign (Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 8.7e-05)
- 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)