A5Q (p.Ala5Gln) variant of ARID1B (Q8NFD5)
A5Q (p.Ala5Gln) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A5Q (p.Ala5Gln) variant details
- p.Ala5Gln
- gnomAD 6-156777692-G-GCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 17.90
- Population evidence available
- Structural context available
- Literature evidence available