Q11H (p.Gln11His) variant of PTCH1 (Protein patched homolog 1)
Q11H (p.Gln11His) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- rs1320203029
- ClinGen CA374121606
- ClinVar RCV001043054
- ClinVar RCV002451165
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.31
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)