G38R (p.Gly38Arg) variant of PTCH1 (Protein patched homolog 1)
G38R (p.Gly38Arg) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- rs45574039
- ClinGen CA196555628
- ClinVar RCV000805151
- ClinVar RCV005260413
- Likely benign
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.18
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)