L58S (p.Leu58Ser) variant of TSC1 (Hamartin)
L58S (p.Leu58Ser) 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; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
L58S (p.Leu58Ser) variant details
- p.Leu58Ser
- rs1846919963
- ClinGen CA375375100
- ClinVar RCV003474195
- TOPMed rs1846919963
- Uncertain significance
- Isolated focal cortical dysplasia type II; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.34
- MetaLR 0.80
- MetaSVM 0.75
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (Isolated focal cortical dysplasia type II; Hereditary cancer-pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available