G31V (p.Gly31Val) variant of BDNF (P23560)
G31V (p.Gly31Val) in BDNF (P23560) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- ExAC rs767681787
- TOPMed rs767681787
- gnomAD rs767681787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)