G19D (p.Gly19Asp) variant of PTCH1 (Protein patched homolog 1)
G19D (p.Gly19Asp) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gorlin syndrome; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- rs587780708
- ClinGen CA374121504
- ClinVar RCV001024426
- ClinVar RCV001064996
- Conflicting interpretations
- Gorlin syndrome; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.36
- CADD 17.60
- PolyPhen-2 0.07
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Hereditary cancer-predisposing syndrome; not pr)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)