P54Q (p.Pro54Gln) variant of HTT (Huntingtin)
P54Q (p.Pro54Gln) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions and structural context.
P54Q (p.Pro54Gln) variant details
- p.Pro54Gln
- TOPMed rs1314330024
- gnomAD rs1314330024
- Missense
- MetaLR 0.03
- MetaSVM -1.04
- SIFT 0.67
- Structural context available