G25E (p.Gly25Glu) variant of PTCH1 (Protein patched homolog 1)
G25E (p.Gly25Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G25E (p.Gly25Glu) variant details
- p.Gly25Glu
- rs774712511
- ClinGen CA5139058
- ClinVar RCV000823669
- ClinVar RCV001766753
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.18
- CADD 9.71
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome; not pr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.5e-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)