D36E (p.Asp36Glu) variant of TSC1 (Hamartin)
D36E (p.Asp36Glu) 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 0.40 / 1. The record also includes published literature and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- rs886063624
- ClinGen CA375375237
- ClinVar RCV003296893
- Ensembl rs886063624
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.14
- MetaLR 0.34
- MetaSVM -0.79
- PolyPhen-2 0.00
- SIFT 0.54
- MutPred 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)