A569D (p.Ala569Asp) variant of PTCH1 (Protein patched homolog 1)
A569D (p.Ala569Asp) 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 Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
A569D (p.Ala569Asp) variant details
- p.Ala569Asp
- rs766973191
- ClinGen CA374117915
- ClinVar RCV000793246
- ExAC rs766973191
- Pathogenic/Likely pathogenic
- Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Gorlin syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)