L21M (p.Leu21Met) variant of TSC2 (Tuberin)
L21M (p.Leu21Met) 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 0.43 / 1. The record also includes published literature and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- rs2084676177
- ClinGen CA394301140
- ClinVar RCV001315122
- Ensembl rs2084676177
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.11
- MetaLR 0.36
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.41
- 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)