D67E (p.Asp67Glu) variant of VCL (Vinculin)
D67E (p.Asp67Glu) 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 0.42 / 1. The record also includes published literature and structural context.
D67E (p.Asp67Glu) variant details
- p.Asp67Glu
- rs1841126519
- ClinGen CA377260106
- ClinVar RCV001302145
- gnomAD rs1841126519
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.98
- MetaLR 0.25
- MetaSVM -0.78
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)