A2V (p.Ala2Val) variant of HTT (Huntingtin)
A2V (p.Ala2Val) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1311999577
- gnomAD rs1311999577
- Missense
- MetaLR 0.09
- MetaSVM -1.03
- SIFT 0.00
- Structural context available