N34I (p.Asn34Ile) variant of TSC1 (Hamartin)
N34I (p.Asn34Ile) 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; Tuberous sclerosis syndrome; Tuberous s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
N34I (p.Asn34Ile) variant details
- p.Asn34Ile
- rs980870206
- ClinGen CA200902497
- ClinVar RCV002375824
- ClinVar RCV003776284
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome; Tuberous s
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.06
- MetaLR 0.19
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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: Tuberous Sclerosis Complex. (PMID 20301399)