L14P (p.Leu14Pro) variant of TSC1 (Hamartin)
L14P (p.Leu14Pro) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TSC1-related disorder. The record also includes structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs2539145316
- ClinGen CA375375389
- ClinVar RCV003405755
- Uncertain significance
- TSC1-related disorder
- Missense
- ClinVar: Uncertain significance (TSC1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available