E72K (p.Glu72Lys) variant of SLC4A1 (Band 3 anion transport protein)
E72K (p.Glu72Lys) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- ExAC rs780200225
- gnomAD rs780200225
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.62
- CADD 23.90
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available