L6M (p.Leu6Met) variant of ALMS1 (Q8TCU4)
L6M (p.Leu6Met) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD 2-73385884-C-A
- Missense
- MetaLR 0.08
- MetaSVM -1.08
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Literature evidence available