L50Q (p.Leu50Gln) variant of TSC1 (Hamartin)
L50Q (p.Leu50Gln) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L50Q (p.Leu50Gln) variant details
- p.Leu50Gln
- Ensembl rs118203341
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available