E2Q (p.Glu2Gln) variant of SLC4A1 (Band 3 anion transport protein)
E2Q (p.Glu2Gln) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- ExAC rs777378002
- gnomAD rs777378002
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.24
- CADD 13.90
- PolyPhen-2 0.03
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available