S32Y (p.Ser32Tyr) variant of RBM20 (RNA-binding protein 20)
S32Y (p.Ser32Tyr) 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.
S32Y (p.Ser32Tyr) variant details
- p.Ser32Tyr
- gnomAD 10-110644549-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.49
- CADD 24.20
- PolyPhen-2 0.53
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available