G445S (p.Gly445Ser) variant of PTCH1 (Protein patched homolog 1)
G445S (p.Gly445Ser) 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; not provided; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G445S (p.Gly445Ser) variant details
- p.Gly445Ser
- rs2118329828
- ClinGen CA374118731
- ClinVar RCV001990218
- ClinVar RCV003348683
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.76
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Gorlin sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)