A33L (p.Ala33Leu) variant of BDNF (P23560)
A33L (p.Ala33Leu) 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.
A33L (p.Ala33Leu) variant details
- p.Ala33Leu
- rs1359126183
- gnomAD 11-27674163-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 15.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available