D10N (p.Asp10Asn) variant of RBM20 (RNA-binding protein 20)
D10N (p.Asp10Asn) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D10N (p.Asp10Asn) variant details
- p.Asp10Asn
- gnomAD 10-110644482-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.33
- MetaLR 0.57
- MetaSVM -0.34
- CADD 29.10
- PolyPhen-2 0.93
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available