E77K (p.Glu77Lys) variant of SLC4A1 (Band 3 anion transport protein)
E77K (p.Glu77Lys) 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 0.83 / 1. The record also includes population frequency data and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- rs1567834917
- ClinGen CA399796322
- ClinVar RCV000722657
- TOPMed rs1567834917
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.86
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available