P3T (p.Pro3Thr) variant of ALMS1 (Q8TCU4)
P3T (p.Pro3Thr) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- gnomAD 2-73385875-C-A
- Missense
- MetaLR 0.11
- MetaSVM -1.05
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available