V143I (p.Val143Ile) variant of HTT (Huntingtin)
V143I (p.Val143Ile) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions, population frequency data, and structural context.
V143I (p.Val143Ile) variant details
- p.Val143Ile
- TOPMed rs1202708405
- gnomAD rs1202708405
- Missense
- MetaLR 0.33
- MetaSVM -0.50
- SIFT 0.00
- Population evidence available
- Structural context available