R35P (p.Arg35Pro) variant of PTCH1 (Protein patched homolog 1)
R35P (p.Arg35Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
R35P (p.Arg35Pro) variant details
- p.Arg35Pro
- rs587778627
- ClinGen CA374121420
- ClinVar RCV003610027
- ExAC rs587778627
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.25
- MetaLR 0.54
- MetaSVM -0.32
- PolyPhen-2 0.22
- SIFT 0.24
- MutPred 0.23
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- 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)