E45Q (p.Glu45Gln) variant of KDM6A (Lysine-specific demethylase 6A)
E45Q (p.Glu45Gln) in KDM6A (Lysine-specific demethylase 6A) 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 0.45 / 1. The record also includes structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- rs1448211324
- ClinGen CA413020353
- ClinVar RCV002467362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.97
- MetaLR 0.37
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available