Q9R (p.Gln9Arg) variant of RBM20 (RNA-binding protein 20)
Q9R (p.Gln9Arg) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- gnomAD 10-110644480-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.28
- MetaLR 0.47
- MetaSVM -0.46
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available