G37E (p.Gly37Glu) variant of PTCH1 (Protein patched homolog 1)
G37E (p.Gly37Glu) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G37E (p.Gly37Glu) variant details
- p.Gly37Glu
- rs748780206
- ClinGen CA5139047
- ClinVar RCV000685634
- ClinVar RCV002458197
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.25
- AlphaMissense 0.09
- MetaLR 0.44
- MetaSVM -0.72
- CADD 12.50
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00039)
- 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)