R33L (p.Arg33Leu) variant of PTCH1 (Protein patched homolog 1)
R33L (p.Arg33Leu) 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 published literature and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- rs2118908774
- ClinGen CA374121428
- ClinVar RCV003177310
- ClinVar RCV006473861
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 0.30
- MetaLR 0.52
- MetaSVM -0.16
- PolyPhen-2 0.98
- SIFT 0.14
- MutPred 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)