E44K (p.Glu44Lys) variant of KDM6A (Lysine-specific demethylase 6A)
E44K (p.Glu44Lys) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- cosmic curated COSV10093
- Ensembl rs2146444057
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.13
- MetaLR 0.24
- MetaSVM -0.50
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available