R56L (p.Arg56Leu) variant of FLNC (Filamin-C)
R56L (p.Arg56Leu) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R56L (p.Arg56Leu) variant details
- p.Arg56Leu
- ExAC rs775484934
- gnomAD rs775484934
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.20
- CADD 26.00
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available