N27D (p.Asn27Asp) variant of TSC2 (Tuberin)
N27D (p.Asn27Asp) 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 0.37 / 1. The record also includes published literature and structural context.
N27D (p.Asn27Asp) variant details
- p.Asn27Asp
- rs2084677815
- ClinGen CA394301280
- ClinVar RCV001118862
- ClinVar RCV001882385
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.17
- MetaLR 0.21
- MetaSVM -0.86
- PolyPhen-2 0.29
- SIFT 0.17
- EVE 0.20
- 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)