P7T (p.Pro7Thr) variant of ALMS1 (Q8TCU4)
P7T (p.Pro7Thr) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 2-73385887-C-A
- Missense
- MetaLR 0.12
- MetaSVM -1.04
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available