A43T (p.Ala43Thr) variant of PTCH1 (Protein patched homolog 1)
A43T (p.Ala43Thr) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs766536174
- ClinGen CA5139042
- ClinVar RCV001324229
- ClinVar RCV002384430
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.21
- CADD 8.92
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- 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)