P48L (p.Pro48Leu) variant of HTT (Huntingtin)
P48L (p.Pro48Leu) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- Ensembl rs1560535378
- Missense
- MetaLR 0.03
- MetaSVM -1.02
- SIFT 0.31
- Structural context available