E43E (p.Glu43Glu) variant of KCNB1 (Q14721)
E43E (p.Glu43Glu) in KCNB1 (Q14721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
E43E (p.Glu43Glu) variant details
- p.Glu43Glu
- gnomAD 20-49299363-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 1.57
- Population evidence available
- Literature evidence available