R99H (p.Arg99His) variant of HTT (Huntingtin)
R99H (p.Arg99His) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions, population frequency data, and structural context.
R99H (p.Arg99His) variant details
- p.Arg99His
- 1000Genomes rs551783257
- ExAC rs551783257
- TOPMed rs551783257
- gnomAD rs551783257
- Missense
- MetaLR 0.44
- MetaSVM -0.11
- SIFT 0.00
- Population evidence available
- Structural context available