D8N (p.Asp8Asn) variant of TSC2 (Tuberin)
D8N (p.Asp8Asn) 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 0.53 / 1. The record also includes published literature and structural context.
D8N (p.Asp8Asn) variant details
- p.Asp8Asn
- rs1596233815
- ClinGen CA394300630
- ClinVar RCV000798636
- Ensembl rs1596233815
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.77
- MetaLR 0.47
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- 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)