S65R (p.Ser65Arg) variant of FLNC (Filamin-C)
S65R (p.Ser65Arg) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S65R (p.Ser65Arg) variant details
- p.Ser65Arg
- 1000Genomes rs1258459459
- TOPMed rs1258459459
- gnomAD rs1258459459
- Uncertain significance
- Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.28
- CADD 27.60
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available