E9K (p.Glu9Lys) variant of SLC4A1 (Band 3 anion transport protein)
E9K (p.Glu9Lys) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- Ensembl rs867756325
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.27
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available