V2L (p.Val2Leu) variant of RBM20 (RNA-binding protein 20)
V2L (p.Val2Leu) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- rs2134792471
- ClinGen CA378527233
- ClinVar RCV001799138
- Ensembl rs2134792471
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.34
- MetaLR 0.52
- MetaSVM -0.27
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)