A569T (p.Ala569Thr) variant of PTCH1 (Protein patched homolog 1)
A569T (p.Ala569Thr) 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 Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A569T (p.Ala569Thr) variant details
- p.Ala569Thr
- rs753240797
- ClinGen CA5138579
- ClinVar RCV001296952
- ClinVar RCV003365301
- Uncertain significance
- Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.87
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Gorlin syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 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)