D67E (p.Asp67Glu) variant of SLC4A1 (Band 3 anion transport protein)
D67E (p.Asp67Glu) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D67E (p.Asp67Glu) variant details
- p.Asp67Glu
- ExAC rs768773486
- TOPMed rs768773486
- gnomAD rs768773486
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.47
- CADD 0.62
- PolyPhen-2 0.04
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available