G8V (p.Gly8Val) variant of TSC1 (Hamartin)
G8V (p.Gly8Val) 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 0.50 / 1. The record also includes published literature and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- rs1269896419
- ClinGen CA375375426
- ClinVar RCV000703291
- TOPMed rs1269896419
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.17
- MetaLR 0.64
- MetaSVM 0.13
- PolyPhen-2 0.11
- SIFT 0.16
- EVE 0.29
- 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)