E24* (p.Glu24Ter) variant of ARID1B (Q8NFD5)
E24* (p.Glu24Ter) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- gnomAD 6-156777750-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 16.50
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available