S14A (p.Ser14Ala) variant of RBM20 (RNA-binding protein 20)
S14A (p.Ser14Ala) in RBM20 (RNA-binding protein 20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- gnomAD 10-110644489-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available