M145L (p.Met145Leu) variant of HTT (Huntingtin)
M145L (p.Met145Leu) in HTT (Huntingtin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
M145L (p.Met145Leu) variant details
- p.Met145Leu
- Ensembl rs953390305
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available