L54L (p.Leu54Leu) variant of FLNB (Filamin-B)
L54L (p.Leu54Leu) in FLNB (Filamin-B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- rs780601404
- gnomAD 3-58008726-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.99
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.252
- Literature evidence available