G1136R (p.Gly1136Arg) variant of PTCH1 (Protein patched homolog 1)
G1136R (p.Gly1136Arg) 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 not provided; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G1136R (p.Gly1136Arg) variant details
- p.Gly1136Arg
- rs1838655420
- ClinGen CA374111739
- cosmic curated COSV10523
- ClinVar RCV001241702
- Likely pathogenic
- not provided; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided)
- 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)