A9R (p.Ala9Arg) variant of ARID1B (Q8NFD5)
A9R (p.Ala9Arg) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A9R (p.Ala9Arg) variant details
- p.Ala9Arg
- gnomAD 6-156777703-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 16.30
- Population evidence available
- Structural context available
- Literature evidence available