G58E (p.Gly58Glu) variant of VCL (Vinculin)
G58E (p.Gly58Glu) 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 0.47 / 1. The record also includes published literature and structural context.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- rs1841125642
- NCI-TCGA Cosmic COSV9928
- cosmic curated COSV99281
- ClinGen CA377259913
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.95
- MetaLR 0.34
- MetaSVM -0.69
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.47
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)