G28V (p.Gly28Val) variant of RBM20 (RNA-binding protein 20)
G28V (p.Gly28Val) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD 10-110644537-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.18
- MetaLR 0.42
- MetaSVM -0.46
- CADD 24.90
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available