Q18R (p.Gln18Arg) variant of VCL (Vinculin)
Q18R (p.Gln18Arg) 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 0.39 / 1. The record also includes published literature and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- rs1840153312
- ClinGen CA377254842
- ClinVar RCV001310049
- TOPMed rs1840153312
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.59
- MetaLR 0.24
- MetaSVM -0.42
- PolyPhen-2 0.89
- SIFT 0.02
- EVE 0.23
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)