L21V (p.Leu21Val) variant of TSC2 (Tuberin)
L21V (p.Leu21Val) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- rs2084676177
- ClinGen CA394301142
- ClinVar RCV002302135
- Ensembl rs2084676177
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- AlphaMissense 0.11
- MetaLR 0.36
- MetaSVM -0.50
- CADD 24.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)