R56C (p.Arg56Cys) variant of FLNC (Filamin-C)
R56C (p.Arg56Cys) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- gnomAD 7-128830803-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.39
- MetaLR 0.35
- MetaSVM -0.19
- CADD 29.00
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available