P78R (p.Pro78Arg) variant of HTT (Huntingtin)
P78R (p.Pro78Arg) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions, population frequency data, and structural context.
P78R (p.Pro78Arg) variant details
- p.Pro78Arg
- 1000Genomes rs1050799427
- TOPMed rs1050799427
- gnomAD rs1050799427
- Missense
- MetaLR 0.03
- MetaSVM -1.08
- SIFT 0.01
- Population evidence available
- Structural context available