E44Q (p.Glu44Gln) variant of KDM6A (Lysine-specific demethylase 6A)
E44Q (p.Glu44Gln) 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 0.39 / 1. The record also includes structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- rs2146444057
- ClinGen CA413020345
- ClinVar RCV003156431
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.13
- MetaLR 0.24
- MetaSVM -0.50
- PolyPhen-2 0.97
- SIFT 0.09
- MutPred 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available