E13D (p.Glu13Asp) variant of ALMS1 (Q8TCU4)
E13D (p.Glu13Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- gnomAD 2-73385907-G-T
- Missense
- MetaLR 0.06
- MetaSVM -1.10
- CADD 25.20
- PolyPhen-2 0.74
- SIFT 0.06
- Population evidence available
- Literature evidence available