W129R (p.Trp129Arg) variant of PTCH1 (Protein patched homolog 1)
W129R (p.Trp129Arg) 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 Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
W129R (p.Trp129Arg) variant details
- p.Trp129Arg
- rs2118873547
- ClinGen CA374120150
- ClinVar RCV001379056
- ClinVar RCV002357284
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; 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)