D20Y (p.Asp20Tyr) variant of RBM20 (RNA-binding protein 20)
D20Y (p.Asp20Tyr) 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 Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- gnomAD rs1286794830
- Uncertain significance
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.42
- MetaLR 0.69
- MetaSVM -0.04
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available