K52N (p.Lys52Asn) variant of AICDA (Q9GZX7)
K52N (p.Lys52Asn) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K52N (p.Lys52Asn) variant details
- p.Lys52Asn
- gnomAD 12-8606865-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.17
- MetaLR 0.36
- MetaSVM -0.40
- CADD 34.00
- PolyPhen-2 0.16
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available