G10V (p.Gly10Val) variant of TSC2 (Tuberin)
G10V (p.Gly10Val) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- rs2084671697
- ClinGen CA394300741
- ClinVar RCV001207076
- TOPMed rs2084671697
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.20
- MetaLR 0.38
- MetaSVM -0.32
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.22
- 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)