R44R (p.Arg44Arg) variant of FLNC (Filamin-C)
R44R (p.Arg44Arg) in FLNC (Filamin-C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R44R (p.Arg44Arg) variant details
- p.Arg44Arg
- gnomAD 7-128830769-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 15.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available