P9T (p.Pro9Thr) variant of ALMS1 (Q8TCU4)
P9T (p.Pro9Thr) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- gnomAD 2-73385893-C-A
- Missense
- MetaLR 0.12
- MetaSVM -1.05
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Literature evidence available