A508D (p.Ala508Asp) variant of TSC2 (Tuberin)
A508D (p.Ala508Asp) 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 0.65 / 1. The record also includes published literature and structural context.
A508D (p.Ala508Asp) variant details
- p.Ala508Asp
- rs1336558090
- ClinGen CA394326238
- ClinVar RCV003628286
- gnomAD rs1336558090
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 1.00
- MetaLR 0.59
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.89
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)