E20K (p.Glu20Lys) variant of FLNC (Filamin-C)
E20K (p.Glu20Lys) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- gnomAD 7-128830695-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.24
- CADD 26.10
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available