G1167R (p.Gly1167Arg) variant of PTCH1 (Protein patched homolog 1)
G1167R (p.Gly1167Arg) 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 0.87 / 1. The record also includes published literature and structural context.
G1167R (p.Gly1167Arg) variant details
- p.Gly1167Arg
- rs1131690985
- ClinGen CA374111537
- cosmic curated COSV59493
- ClinVar RCV000492431
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: 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)