G45G (p.Gly45Gly) variant of KDM6B (Lysine-specific demethylase 6B)
G45G (p.Gly45Gly) in KDM6B (Lysine-specific demethylase 6B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G45G (p.Gly45Gly) variant details
- p.Gly45Gly
- gnomAD 17-7845689-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 17.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available