G509R (p.Gly509Arg) variant of PTCH1 (Protein patched homolog 1)
G509R (p.Gly509Arg) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G509R (p.Gly509Arg) variant details
- p.Gly509Arg
- rs2118285458
- ClinGen CA374118312
- ClinVar RCV001385524
- UniProt VAR 010974
- Pathogenic
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Gorlin syndrome)
- EBI: Pathogenic (in BCNS1)
- UniProt: Pathogenic (in BCNS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell… (PMID 8840969)
- Cited in: Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast… (PMID 11231326)