D10E (p.Asp10Glu) variant of RBM20 (RNA-binding protein 20)
D10E (p.Asp10Glu) 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 and structural context.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- gnomAD rs1347126862
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.20
- MetaLR 0.49
- MetaSVM -0.58
- CADD 22.30
- PolyPhen-2 0.21
- SIFT 0.93
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available