L12L (p.Leu12Leu) variant of ALMS1 (Q8TCU4)
L12L (p.Leu12Leu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs199611703
- gnomAD 2-73385902-C-T
- Synonymous
- CADD 15.10
- Population evidence available
- Literature evidence available