A139V (p.Ala139Val) variant of HTT (Huntingtin)
A139V (p.Ala139Val) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions, population frequency data, and structural context.
A139V (p.Ala139Val) variant details
- p.Ala139Val
- TOPMed rs1361778147
- gnomAD rs1361778147
- Missense
- MetaLR 0.14
- MetaSVM -0.88
- SIFT 0.07
- Population evidence available
- Structural context available