L45V (p.Leu45Val) variant of TSC1 (Hamartin)
L45V (p.Leu45Val) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Isolated focal cortical dysplasia type II; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- rs755226092
- ClinGen CA375375188
- ClinVar RCV001974735
- ClinVar RCV004804318
- Uncertain significance
- Isolated focal cortical dysplasia type II; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.22
- MetaLR 0.78
- MetaSVM 0.57
- PolyPhen-2 0.99
- SIFT 0.24
- EVE 0.60
- ClinVar: Uncertain significance (Isolated focal cortical dysplasia type II; Tuberous sclerosis 1)
- EBI: Benign
- UniProt: Benign
- 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)