R27P (p.Arg27Pro) variant of BDNF (P23560)
R27P (p.Arg27Pro) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- gnomAD 11-27658485-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.18
- MetaLR 0.23
- MetaSVM -0.70
- CADD 22.80
- PolyPhen-2 0.58
- SIFT 0.34
- Most common in the East Asian population (allele frequency 2.5e-05)
- Literature evidence available