R7H (p.Arg7His) variant of VCL (Vinculin)
R7H (p.Arg7His) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- rs764871020
- ClinGen CA377254595
- ClinVar RCV001881300
- ClinVar RCV002422952
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.11
- CADD 26.60
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)