D20N (p.Asp20Asn) variant of RBM20 (RNA-binding protein 20)
D20N (p.Asp20Asn) 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 and structural context.
D20N (p.Asp20Asn) variant details
- p.Asp20Asn
- gnomAD rs1286794830
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.30
- MetaLR 0.57
- MetaSVM -0.27
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available