S8I (p.Ser8Ile) variant of RBM20 (RNA-binding protein 20)
S8I (p.Ser8Ile) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- gnomAD 10-110644477-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.35
- MetaLR 0.58
- MetaSVM -0.23
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available