E9G (p.Glu9Gly) variant of SLC4A1 (Band 3 anion transport protein)
E9G (p.Glu9Gly) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- ExAC rs781547181
- TOPMed rs781547181
- gnomAD rs781547181
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available