E60D (p.Glu60Asp) variant of SLC4A1 (Band 3 anion transport protein)
E60D (p.Glu60Asp) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- ESP rs369101481
- ExAC rs369101481
- gnomAD rs369101481
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.59
- CADD 25.20
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available