D45T (p.Asp45Thr) variant of AICDA (Q9GZX7)
D45T (p.Asp45Thr) in AICDA (Q9GZX7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D45T (p.Asp45Thr) variant details
- p.Asp45Thr
- gnomAD 12-8606887-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 28.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available