A34S (p.Ala34Ser) variant of RBM20 (RNA-binding protein 20)
A34S (p.Ala34Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- gnomAD 10-110644554-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- MetaLR 0.48
- MetaSVM -0.54
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available