A2A (p.Ala2Ala) variant of FUS (RNA-binding protein FUS)
A2A (p.Ala2Ala) in FUS (RNA-binding protein FUS) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs549671130
- gnomAD 16-31180220-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available