A79E (p.Ala79Glu) variant of SLC4A1 (Band 3 anion transport protein)
A79E (p.Ala79Glu) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A79E (p.Ala79Glu) variant details
- p.Ala79Glu
- ESP rs376688172
- ExAC rs376688172
- TOPMed rs376688172
- gnomAD rs376688172
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.63
- CADD 21.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available