D12G (p.Asp12Gly) variant of RBM20 (RNA-binding protein 20)
D12G (p.Asp12Gly) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- gnomAD 10-110644489-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.27
- MetaLR 0.54
- MetaSVM -0.36
- CADD 22.40
- PolyPhen-2 0.39
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available