R21G (p.Arg21Gly) variant of RBM20 (RNA-binding protein 20)
R21G (p.Arg21Gly) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R21G (p.Arg21Gly) variant details
- p.Arg21Gly
- TOPMed rs1429507198
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.47
- MetaLR 0.73
- MetaSVM 0.13
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available