G5G (p.Gly5Gly) variant of KDM6A (Lysine-specific demethylase 6A)
G5G (p.Gly5Gly) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G5G (p.Gly5Gly) variant details
- p.Gly5Gly
- rs749368573
- gnomAD X-44873566-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 15.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available