G16D (p.Gly16Asp) variant of PTCH1 (Protein patched homolog 1)
G16D (p.Gly16Asp) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- rs1843909922
- ClinGen CA374121537
- ClinVar RCV001214140
- ClinVar RCV004944882
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.34
- CADD 10.40
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)