A29S (p.Ala29Ser) variant of RBM20 (RNA-binding protein 20)
A29S (p.Ala29Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 10-110644539-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.25
- MetaLR 0.45
- MetaSVM -0.43
- CADD 23.80
- PolyPhen-2 0.84
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available