E44Q (p.Glu44Gln) variant of BDNF (P23560)
E44Q (p.Glu44Gln) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- gnomAD 11-27658435-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.21
- MetaLR 0.29
- MetaSVM -0.57
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available