A16G (p.Ala16Gly) variant of ARID1B (Q8NFD5)
A16G (p.Ala16Gly) 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.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- gnomAD 6-156777724-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available