p.Leu12 Glu13insVal variant of ALMS1 (Q8TCU4)
p.Leu12 Glu13insVal in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Leu12 Glu13insVal variant details
- rs1244345693
- gnomAD 2-73385902-C-CTGG
- Inframe Insertion
- CADD 21.70
- Population evidence available
- Literature evidence available