E2D (p.Glu2Asp) variant of ALMS1 (Q8TCU4)
E2D (p.Glu2Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- ExAC rs781075077
- TOPMed rs781075077
- gnomAD rs781075077
- Missense
- MetaLR 0.04
- MetaSVM -1.05
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)