R32G (p.Arg32Gly) variant of PTCH1 (Protein patched homolog 1)
R32G (p.Arg32Gly) 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; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- rs913603578
- ClinGen CA196555664
- ClinVar RCV001059459
- ClinVar RCV002374944
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.20
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-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)