M129L (p.Met129Leu) variant of HTT (Huntingtin)
M129L (p.Met129Leu) 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.
M129L (p.Met129Leu) variant details
- p.Met129Leu
- 1000Genomes rs77742164
- ExAC rs77742164
- TOPMed rs77742164
- gnomAD rs77742164
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available