Q18H (p.Gln18His) variant of RBM20 (RNA-binding protein 20)
Q18H (p.Gln18His) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- gnomAD 10-110644508-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.37
- MetaLR 0.49
- MetaSVM -0.34
- CADD 20.20
- PolyPhen-2 0.70
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available