G28C (p.Gly28Cys) variant of RBM20 (RNA-binding protein 20)
G28C (p.Gly28Cys) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- gnomAD 10-110644536-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.26
- MetaLR 0.55
- MetaSVM -0.28
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available