S18I (p.Ser18Ile) variant of PTCH1 (Protein patched homolog 1)
S18I (p.Ser18Ile) 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 Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
S18I (p.Ser18Ile) variant details
- p.Ser18Ile
- rs750062220
- ClinGen CA374121509
- ClinVar RCV002815349
- ClinVar RCV004946061
- Uncertain significance
- Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.09
- MetaLR 0.44
- MetaSVM -0.38
- PolyPhen-2 0.00
- SIFT 0.32
- MutPred 0.28
- ClinVar: Uncertain significance (Gorlin syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)