G48R (p.Gly48Arg) variant of BDNF (P23560)
G48R (p.Gly48Arg) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- TOPMed rs1852851466
- gnomAD rs1852851466
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.35
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)