R56Q (p.Arg56Gln) variant of VCL (Vinculin)
R56Q (p.Arg56Gln) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R56Q (p.Arg56Gln) variant details
- p.Arg56Gln
- rs1840155750
- ClinGen CA377255552
- ClinVar RCV002643934
- Ensembl rs1840155750
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.21
- CADD 26.50
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)