V55L (p.Val55Leu) variant of VCL (Vinculin)
V55L (p.Val55Leu) 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 0.36 / 1. The record also includes published literature and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- rs755441334
- ClinGen CA377255535
- ClinVar RCV001306785
- ExAC rs755441334
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.94
- MetaLR 0.31
- MetaSVM -0.32
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.18
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)