Q18E (p.Gln18Glu) variant of RBM20 (RNA-binding protein 20)
Q18E (p.Gln18Glu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- gnomAD 10-110644506-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.35
- MetaLR 0.56
- MetaSVM -0.41
- CADD 21.00
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available