L40L (p.Leu40Leu) variant of FLNB (Filamin-B)
L40L (p.Leu40Leu) in FLNB (Filamin-B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs751263946
- gnomAD 3-58008682-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 14.90
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.225
- Literature evidence available