G50G (p.Gly50Gly) variant of KDM6A (Lysine-specific demethylase 6A)
G50G (p.Gly50Gly) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G50G (p.Gly50Gly) variant details
- p.Gly50Gly
- rs1472145906
- gnomAD X-44873701-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available