A5A (p.Ala5Ala) variant of ARID1B (Q8NFD5)
A5A (p.Ala5Ala) in ARID1B (Q8NFD5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs547599734
- gnomAD 6-156777695-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 18.10
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available