T24R (p.Thr24Arg) variant of FLNC (Filamin-C)
T24R (p.Thr24Arg) 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 0.43 / 1. The record also includes population frequency data and structural context.
T24R (p.Thr24Arg) variant details
- p.Thr24Arg
- rs1251048006
- ClinGen CA369215600
- ClinVar RCV004511078
- TOPMed rs1251048006
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.20
- AlphaMissense 0.65
- MetaLR 0.27
- MetaSVM -0.51
- CADD 25.70
- PolyPhen-2 0.93
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available