A34E (p.Ala34Glu) variant of RBM20 (RNA-binding protein 20)
A34E (p.Ala34Glu) 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.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- gnomAD 10-110644555-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.29
- MetaLR 0.43
- MetaSVM -0.55
- CADD 14.40
- PolyPhen-2 0.21
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available