R26L (p.Arg26Leu) variant of PTCH1 (Protein patched homolog 1)
R26L (p.Arg26Leu) 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; Basal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- rs1181222222
- ClinGen CA374121468
- ClinVar RCV000809957
- ClinVar RCV003166288
- Conflicting interpretations
- Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.23
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)