R35W (p.Arg35Trp) variant of PTCH1 (Protein patched homolog 1)
R35W (p.Arg35Trp) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs1385550193
- ClinGen CA374121421
- ClinVar RCV001238228
- ClinVar RCV004944937
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.32
- CADD 22.20
- PolyPhen-2 0.25
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.3e-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)