I3M (p.Ile3Met) variant of BDNF (P23560)
I3M (p.Ile3Met) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
I3M (p.Ile3Met) variant details
- p.Ile3Met
- gnomAD 11-27658556-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.38
- MetaLR 0.31
- MetaSVM -0.51
- CADD 23.40
- PolyPhen-2 0.94
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available