E24K (p.Glu24Lys) variant of AIP (AH receptor-interacting protein)
E24K (p.Glu24Lys) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- rs267606568
- ClinGen CA381545838
- ClinVar RCV003710863
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.16
- SIFT 0.06
- MutPred 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available