R33C (p.Arg33Cys) variant of PTCH1 (Protein patched homolog 1)
R33C (p.Arg33Cys) 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 Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- rs1843899190
- ClinGen CA374121431
- ClinVar RCV002387228
- ClinVar RCV003094876
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.43
- CADD 24.70
- PolyPhen-2 0.32
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-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)