T52Q (p.Thr52Gln) variant of ARID2 (Q68CP9)
T52Q (p.Thr52Gln) in ARID2 (Q68CP9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T52Q (p.Thr52Gln) variant details
- p.Thr52Gln
- gnomAD 12-45730102-TAC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available