S3W (p.Ser3Trp) variant of PTCH1 (Protein patched homolog 1)
S3W (p.Ser3Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
S3W (p.Ser3Trp) variant details
- p.Ser3Trp
- rs1587701230
- ClinGen CA374121772
- ClinVar RCV000809029
- Ensembl rs1587701230
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.35
- MetaLR 0.76
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Gorlin 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)