K52E (p.Lys52Glu) variant of AICDA (Q9GZX7)
K52E (p.Lys52Glu) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
K52E (p.Lys52Glu) variant details
- p.Lys52Glu
- TOPMed rs1941294465
- gnomAD rs1941294465
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.09
- MetaLR 0.18
- MetaSVM -0.88
- CADD 17.60
- PolyPhen-2 0.05
- SIFT 0.22
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available