E109G (p.Glu109Gly) variant of SLC4A1 (Band 3 anion transport protein)
E109G (p.Glu109Gly) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E109G (p.Glu109Gly) variant details
- p.Glu109Gly
- gnomAD rs1321415255
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.74
- CADD 25.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available