R56W (p.Arg56Trp) variant of VCL (Vinculin)
R56W (p.Arg56Trp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R56W (p.Arg56Trp) variant details
- p.Arg56Trp
- rs1555112641
- ClinGen CA377255550
- ClinVar RCV000553908
- Ensembl rs1555112641
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.33
- CADD 33.00
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.6e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)