G509D (p.Gly509Asp) variant of PTCH1 (Protein patched homolog 1)
G509D (p.Gly509Asp) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G509D (p.Gly509Asp) variant details
- p.Gly509Asp
- rs1060502268
- ClinGen CA16612860
- cosmic curated COSV59465
- ClinVar RCV000477105
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Pathogenic (in BCNS1)
- UniProt: Pathogenic (in BCNS1)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- 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)