E481D (p.Glu481Asp) variant of TSC2 (Tuberin)
E481D (p.Glu481Asp) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E481D (p.Glu481Asp) variant details
- p.Glu481Asp
- rs137854876
- ClinGen CA394324174
- ClinVar RCV003512464
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.41
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.05
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)