G1093R (p.Gly1093Arg) variant of PTCH1 (Protein patched homolog 1)
G1093R (p.Gly1093Arg) 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 0.77 / 1. The record also includes published literature and structural context.
G1093R (p.Gly1093Arg) variant details
- p.Gly1093Arg
- rs2136647822
- Ensembl rs2136647822
- ClinGen CA374112013
- cosmic curated COSV10523
- Likely pathogenic
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Likely pathogenic (Gorlin 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)