L54F (p.Leu54Phe) variant of VCL (Vinculin)
L54F (p.Leu54Phe) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1W. The record also includes published literature and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- rs2549180873
- ClinGen CA377255516
- ClinVar RCV003513197
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)