E109D (p.Glu109Asp) variant of SLC4A1 (Band 3 anion transport protein)
E109D (p.Glu109Asp) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E109D (p.Glu109Asp) variant details
- p.Glu109Asp
- ExAC rs753548782
- TOPMed rs753548782
- gnomAD rs753548782
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.38
- CADD 10.50
- PolyPhen-2 0.16
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available