R56G (p.Arg56Gly) variant of FLNC (Filamin-C)
R56G (p.Arg56Gly) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- rs2536605259
- ClinGen CA369216171
- ClinVar RCV002403969
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.14
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available