D12Y (p.Asp12Tyr) variant of PTCH1 (Protein patched homolog 1)
D12Y (p.Asp12Tyr) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- rs2538404636
- ClinGen CA374121599
- ClinVar RCV002337534
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)