Q18R (p.Gln18Arg) variant of RBM20 (RNA-binding protein 20)
Q18R (p.Gln18Arg) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- gnomAD 10-110644507-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.35
- MetaLR 0.51
- MetaSVM -0.42
- CADD 17.90
- PolyPhen-2 0.27
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available