A6A (p.Ala6Ala) variant of RBM20 (RNA-binding protein 20)
A6A (p.Ala6Ala) in RBM20 (RNA-binding protein 20) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- rs1395432885
- gnomAD 10-110644472-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available