N32K (p.Asn32Lys) variant of TSC1 (Hamartin)
N32K (p.Asn32Lys) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
N32K (p.Asn32Lys) variant details
- p.Asn32Lys
- rs1588363242
- ClinGen CA375375274
- ClinVar RCV001019650
- Ensembl rs1588363242
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.33
- MetaLR 0.55
- MetaSVM -0.21
- PolyPhen-2 0.01
- SIFT 0.31
- EVE 0.67
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)