P54L (p.Pro54Leu) variant of HTT (Huntingtin)
P54L (p.Pro54Leu) in HTT (Huntingtin) is a missense change. The record also includes population frequency data and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- TOPMed rs1314330024
- gnomAD rs1314330024
- Missense
- Population evidence available
- Structural context available