L14L (p.Leu14Leu) variant of FLNC (Filamin-C)
L14L (p.Leu14Leu) in FLNC (Filamin-C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs1807849196
- gnomAD 7-128830677-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 13.50
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available