D20E (p.Asp20Glu) variant of RBM20 (RNA-binding protein 20)
D20E (p.Asp20Glu) 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.
D20E (p.Asp20Glu) variant details
- p.Asp20Glu
- gnomAD 10-110644514-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.26
- MetaLR 0.48
- MetaSVM -0.46
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available