E12A (p.Glu12Ala) variant of HTT (Huntingtin)
E12A (p.Glu12Ala) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions and structural context.
E12A (p.Glu12Ala) variant details
- p.Glu12Ala
- gnomAD rs1461907867
- Missense
- MetaLR 0.04
- MetaSVM -1.11
- SIFT 0.00
- Structural context available