E9D (p.Glu9Asp) variant of PTCH1 (Protein patched homolog 1)
E9D (p.Glu9Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- rs1354741081
- ClinGen CA374121638
- ClinVar RCV002441576
- gnomAD rs1354741081
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- CADD 17.90
- PolyPhen-2 0.02
- SIFT 0.51
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)