Q11K (p.Gln11Lys) variant of PTCH1 (Protein patched homolog 1)
Q11K (p.Gln11Lys) 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 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.
Q11K (p.Gln11Lys) variant details
- p.Gln11Lys
- rs2538404666
- ClinGen CA374121621
- ClinVar RCV003608788
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.19
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (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)