L50L (p.Leu50Leu) variant of FLNC (Filamin-C)
L50L (p.Leu50Leu) in FLNC (Filamin-C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs746124763
- gnomAD 7-128830787-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 12.50
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available