K16N (p.Lys16Asn) variant of TSC2 (Tuberin)
K16N (p.Lys16Asn) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- rs2084674938
- ClinGen CA394301004
- cosmic curated COSV10726
- ClinVar RCV001324147
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.80
- MetaLR 0.35
- MetaSVM -0.33
- PolyPhen-2 0.32
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2)
- 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)