E22S (p.Glu22Ser) variant of ARID2 (Q68CP9)
E22S (p.Glu22Ser) in ARID2 (Q68CP9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E22S (p.Glu22Ser) variant details
- p.Glu22Ser
- gnomAD 12-45729881-G-GGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available