S11F (p.Ser11Phe) variant of BDNF (P23560)
S11F (p.Ser11Phe) in BDNF (P23560) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
S11F (p.Ser11Phe) variant details
- p.Ser11Phe
- rs1287429853
- gnomAD 11-27674268-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 24.40
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Literature evidence available