M21L (p.Met21Leu) variant of FLNC (Filamin-C)
M21L (p.Met21Leu) 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 record also includes structural context.
M21L (p.Met21Leu) variant details
- p.Met21Leu
- TOPMed rs1174042673
- gnomAD rs1174042673
- Uncertain significance
- Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available