P20L (p.Pro20Leu) variant of BDNF (P23560)
P20L (p.Pro20Leu) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD 11-27658506-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.57
- MetaLR 0.26
- MetaSVM -0.65
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available