W926S (p.Trp926Ser) variant of PTCH1 (Protein patched homolog 1)
W926S (p.Trp926Ser) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
W926S (p.Trp926Ser) variant details
- p.Trp926Ser
- rs2136672063
- ClinGen CA374113102
- ClinVar RCV002024259
- Ensembl rs2136672063
- Likely pathogenic
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Gorlin syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)