R21I (p.Arg21Ile) variant of RBM20 (RNA-binding protein 20)
R21I (p.Arg21Ile) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R21I (p.Arg21Ile) variant details
- p.Arg21Ile
- gnomAD 10-110644516-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.47
- MetaLR 0.75
- MetaSVM 0.38
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available