E23A (p.Glu23Ala) variant of BDNF (P23560)
E23A (p.Glu23Ala) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
E23A (p.Glu23Ala) variant details
- p.Glu23Ala
- gnomAD 11-27658497-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- MetaLR 0.38
- MetaSVM -0.28
- CADD 26.10
- PolyPhen-2 0.55
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available