E9K (p.Glu9Lys) variant of PTCH1 (Protein patched homolog 1)
E9K (p.Glu9Lys) 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 Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs1843914121
- ClinGen CA374121660
- ClinVar RCV001037419
- ClinVar RCV003283878
- Conflicting interpretations
- Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.2e-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)