E44K (p.Glu44Lys) variant of BDNF (P23560)
E44K (p.Glu44Lys) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- cosmic curated COSV59236
- TOPMed rs1852853121
- gnomAD rs1852853121
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.19
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)