H48H (p.His48His) variant of ARID2 (Q68CP9)
H48H (p.His48His) in ARID2 (Q68CP9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H48H (p.His48His) variant details
- p.His48His
- rs1373206642
- gnomAD 12-45730095-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 11.30
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available