V51F (p.Val51Phe) variant of VCL (Vinculin)
V51F (p.Val51Phe) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
V51F (p.Val51Phe) variant details
- p.Val51Phe
- rs1565628951
- ClinGen CA377255463
- ClinVar RCV000780786
- ClinVar RCV001869155
- Uncertain significance
- not specified; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.40
- MetaLR 0.31
- MetaSVM -0.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (not specified; Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)