L12R (p.Leu12Arg) variant of ALMS1 (Q8TCU4)
L12R (p.Leu12Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- rs1670506403
- gnomAD 2-73385902-CT-C
- Frameshift
- CADD 28.80
- Population evidence available
- Literature evidence available