N6K (p.Asn6Lys) variant of PTCH1 (Protein patched homolog 1)
N6K (p.Asn6Lys) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N6K (p.Asn6Lys) variant details
- p.Asn6Lys
- rs878853848
- ClinGen CA374121722
- ClinVar RCV001305200
- ClinVar RCV004944983
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.20
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)