R32T (p.Arg32Thr) variant of PTCH1 (Protein patched homolog 1)
R32T (p.Arg32Thr) 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 Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R32T (p.Arg32Thr) variant details
- p.Arg32Thr
- rs746923835
- ClinGen CA5139052
- ClinVar RCV001373267
- ClinVar RCV003298619
- Conflicting interpretations
- Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.20
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.85
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-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)