A8A (p.Ala8Ala) variant of ARID1B (Q8NFD5)
A8A (p.Ala8Ala) in ARID1B (Q8NFD5) 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.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs1269350951
- gnomAD 6-156777704-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 17.10
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available