E72A (p.Glu72Ala) variant of SLC4A1 (Band 3 anion transport protein)
E72A (p.Glu72Ala) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E72A (p.Glu72Ala) variant details
- p.Glu72Ala
- ExAC rs770137241
- gnomAD rs770137241
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.55
- CADD 25.70
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available