A8Q (p.Ala8Gln) variant of ARID1B (Q8NFD5)
A8Q (p.Ala8Gln) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A8Q (p.Ala8Gln) variant details
- p.Ala8Gln
- gnomAD 6-156777701-G-GCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 18.20
- Population evidence available
- Structural context available
- Literature evidence available