S8G (p.Ser8Gly) variant of RBM20 (RNA-binding protein 20)
S8G (p.Ser8Gly) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- gnomAD 10-110644476-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.32
- MetaLR 0.50
- MetaSVM -0.32
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available