L45* (p.Leu45Ter) variant of TSC1 (Hamartin)
L45* (p.Leu45Ter) in TSC1 (Hamartin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
L45* (p.Leu45Ter) variant details
- p.Leu45Ter
- rs1554820662
- ClinGen CA375375187
- ClinVar RCV001530776
- Ensembl rs1554820662
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.97
- MetaLR 0.87
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available