D142Y (p.Asp142Tyr) variant of HTT (Huntingtin)
D142Y (p.Asp142Tyr) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions, population frequency data, and structural context.
D142Y (p.Asp142Tyr) variant details
- p.Asp142Tyr
- ExAC rs752654123
- gnomAD rs752654123
- Missense
- MetaLR 0.44
- MetaSVM -0.13
- SIFT 0.00
- Population evidence available
- Structural context available