Q18* (p.Gln18Ter) variant of RBM20 (RNA-binding protein 20)
Q18* (p.Gln18Ter) in RBM20 (RNA-binding protein 20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- gnomAD 10-110644506-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available