R40C (p.Arg40Cys) variant of PTCH1 (Protein patched homolog 1)
R40C (p.Arg40Cys) 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; 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.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- rs1843895996
- ClinGen CA374121403
- ClinVar RCV001057199
- ClinVar RCV002348420
- Uncertain significance
- Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.24
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)