V44M (p.Val44Met) variant of VCL (Vinculin)
V44M (p.Val44Met) in VCL (Vinculin) is a missense change. Clinical records from ClinVar 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 0.60 / 1. The record also includes population frequency data and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- 1000Genomes rs554116863
- ExAC rs554116863
- TOPMed rs554116863
- gnomAD rs554116863
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.44
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available