S45G (p.Ser45Gly) variant of BDNF (P23560)
S45G (p.Ser45Gly) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
S45G (p.Ser45Gly) variant details
- p.Ser45Gly
- gnomAD 11-27658432-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.82
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available