D47E (p.Asp47Glu) variant of TSC1 (Hamartin)
D47E (p.Asp47Glu) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- rs2132269121
- ClinGen CA375375169
- ClinVar RCV002824214
- Ensembl rs2132269121
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.32
- MetaLR 0.68
- MetaSVM 0.17
- PolyPhen-2 0.76
- SIFT 0.10
- EVE 0.43
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)