G20D (p.Gly20Asp) variant of TSC1 (Hamartin)
G20D (p.Gly20Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs2132295150
- ClinGen CA375375351
- ClinVar RCV003237460
- ClinVar RCV003505185
- Uncertain significance
- Tuberous sclerosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.48
- PolyPhen-2 0.00
- SIFT 0.54
- EVE 0.10
- ClinVar: Uncertain significance (Tuberous sclerosis 1; not provided)
- 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)