P72T (p.Pro72Thr) variant of HTT (Huntingtin)
P72T (p.Pro72Thr) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions, population frequency data, and structural context.
P72T (p.Pro72Thr) variant details
- p.Pro72Thr
- TOPMed rs1231836584
- gnomAD rs1231836584
- Missense
- MetaLR 0.06
- MetaSVM -1.00
- SIFT 0.15
- Population evidence available
- Structural context available