L41V (p.Leu41Val) variant of TSC1 (Hamartin)
L41V (p.Leu41Val) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- ESP rs118203334
- ExAC rs118203334
- TOPMed rs118203334
- gnomAD rs118203334
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available