R13C (p.Arg13Cys) variant of PTCH1 (Protein patched homolog 1)
R13C (p.Arg13Cys) 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; Basal cell carcinoma, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs779791579
- ClinGen CA374121580
- ClinVar RCV001195974
- ClinVar RCV002365895
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Basal cell carcinoma, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Basal cell carcinoma, s)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)