R7L (p.Arg7Leu) variant of VCL (Vinculin)
R7L (p.Arg7Leu) 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; Hypertrophic cardiomyopathy 15; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- rs764871020
- ClinGen CA5562694
- ClinVar RCV000794108
- ClinVar RCV002501044
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 15; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.17
- CADD 25.90
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 15; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.2e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)