G1408D (p.Gly1408Asp) variant of TSC2 (Tuberin)
G1408D (p.Gly1408Asp) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G1408D (p.Gly1408Asp) variant details
- p.Gly1408Asp
- rs202068995
- ClinGen CA394300149
- ClinVar RCV003234985
- ExAC rs202068995
- Pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.38
- CADD 17.80
- PolyPhen-2 0.26
- SIFT 0.26
- ClinVar: Pathogenic (Tuberous sclerosis 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)