V47G (p.Val47Gly) variant of VCL (Vinculin)
V47G (p.Val47Gly) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
V47G (p.Val47Gly) variant details
- p.Val47Gly
- rs2136218338
- ClinGen CA377255406
- ClinVar RCV001799342
- ClinVar RCV004596487
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.97
- MetaLR 0.39
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)