A11R (p.Ala11Arg) variant of ARID1B (Q8NFD5)
A11R (p.Ala11Arg) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A11R (p.Ala11Arg) variant details
- p.Ala11Arg
- gnomAD 6-156777709-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available