E68* (p.Glu68Ter) variant of SLC4A1 (Band 3 anion transport protein)
E68* (p.Glu68Ter) in SLC4A1 (Band 3 anion transport protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E68* (p.Glu68Ter) variant details
- p.Glu68Ter
- rs13306787
- ClinGen CA399796500
- ClinVar RCV000756656
- 1000Genomes rs13306787
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 34.00
- EBI: Pathogenic (in dbSNP:rs13306787)
- UniProt: Pathogenic (in dbSNP:rs13306787)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available