G20A (p.Gly20Ala) variant of TSC1 (Hamartin)
G20A (p.Gly20Ala) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- rs2132295150
- ClinGen CA375375353
- ClinVar RCV002299311
- ClinVar RCV003223753
- Uncertain significance
- not provided; Tuberous sclerosis 1
- 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 (not provided; 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)