Q9K (p.Gln9Lys) variant of RBM20 (RNA-binding protein 20)
Q9K (p.Gln9Lys) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q9K (p.Gln9Lys) variant details
- p.Gln9Lys
- gnomAD 10-110644479-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.32
- MetaLR 0.49
- MetaSVM -0.30
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available