A5A (p.Ala5Ala) variant of RBM20 (RNA-binding protein 20)
A5A (p.Ala5Ala) in RBM20 (RNA-binding protein 20) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs1267175101
- gnomAD 10-110644469-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available