G484R (p.Gly484Arg) variant of PTCH1 (Protein patched homolog 1)
G484R (p.Gly484Arg) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G484R (p.Gly484Arg) variant details
- p.Gly484Arg
- rs1841155526
- ClinGen CA374118480
- cosmic curated COSV59479
- ClinVar RCV001040288
- Pathogenic
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: 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)