G54G (p.Gly54Gly) variant of FLNC (Filamin-C)
G54G (p.Gly54Gly) in FLNC (Filamin-C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G54G (p.Gly54Gly) variant details
- p.Gly54Gly
- rs1365748873
- gnomAD 7-128830799-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 16.30
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available