K52K (p.Lys52Lys) variant of AICDA (Q9GZX7)
K52K (p.Lys52Lys) in AICDA (Q9GZX7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
K52K (p.Lys52Lys) variant details
- p.Lys52Lys
- rs374147134
- gnomAD 12-8606865-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 29.60
- Population evidence available
- Structural context available
- Literature evidence available