L18V (p.Leu18Val) variant of TSC2 (Tuberin)
L18V (p.Leu18Val) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs1596234078
- ClinGen CA394301054
- ClinVar RCV003628542
- Ensembl rs1596234078
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.09
- CADD 19.70
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)