E17E (p.Glu17Glu) variant of FLNC (Filamin-C)
E17E (p.Glu17Glu) in FLNC (Filamin-C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E17E (p.Glu17Glu) variant details
- p.Glu17Glu
- rs753490528
- gnomAD 7-128830688-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 9.98
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available