L49L (p.Leu49Leu) variant of KDM6A (Lysine-specific demethylase 6A)
L49L (p.Leu49Leu) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs766103037
- gnomAD X-44873698-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 14.30
- Most common in the Latino/Admixed American population (allele frequency 9.3e-05)
- Structural context available
- Literature evidence available