A79G (p.Ala79Gly) variant of SLC4A1 (Band 3 anion transport protein)
A79G (p.Ala79Gly) 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.
A79G (p.Ala79Gly) variant details
- p.Ala79Gly
- ESP rs376688172
- ExAC rs376688172
- TOPMed rs376688172
- gnomAD rs376688172
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.61
- CADD 17.20
- PolyPhen-2 0.47
- SIFT 0.27
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available