E17E (p.Glu17Glu) variant of RBM20 (RNA-binding protein 20)
E17E (p.Glu17Glu) in RBM20 (RNA-binding protein 20) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E17E (p.Glu17Glu) variant details
- p.Glu17Glu
- gnomAD 10-110644505-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available