E14K (p.Glu14Lys) variant of SLC4A1 (Band 3 anion transport protein)
E14K (p.Glu14Lys) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- ExAC rs763516149
- TOPMed rs763516149
- gnomAD rs763516149
- Missense
- Variant Prioritization Score for Impact Estimate 0.0901
- REVEL 0.11
- CADD 1.71
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available