E23* (p.Glu23Ter) variant of BDNF (P23560)
E23* (p.Glu23Ter) in BDNF (P23560) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- gnomAD 11-27674218-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 33.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available