H56Q (p.His56Gln) variant of AICDA (Q9GZX7)
H56Q (p.His56Gln) in AICDA (Q9GZX7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H56Q (p.His56Gln) variant details
- p.His56Gln
- gnomAD 12-8605474-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available