L8L (p.Leu8Leu) variant of KDM6A (Lysine-specific demethylase 6A)
L8L (p.Leu8Leu) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- rs2031055969
- gnomAD X-44873575-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 13.60
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available