A34T (p.Ala34Thr) variant of RBM20 (RNA-binding protein 20)
A34T (p.Ala34Thr) 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 and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- gnomAD rs1164546317
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.23
- MetaLR 0.51
- MetaSVM -0.44
- CADD 22.90
- PolyPhen-2 0.16
- SIFT 0.10
- Population evidence available
- Structural context available