E19K (p.Glu19Lys) variant of SLC4A1 (Band 3 anion transport protein)
E19K (p.Glu19Lys) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs55926998
- ClinGen CA8600744
- ClinVar RCV001872999
- 1000Genomes rs55926998
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.07
- CADD 8.50
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available