S8R (p.Ser8Arg) variant of RBM20 (RNA-binding protein 20)
S8R (p.Ser8Arg) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- gnomAD 10-110644478-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.34
- MetaLR 0.48
- MetaSVM -0.32
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available