A14A (p.Ala14Ala) variant of KDM6A (Lysine-specific demethylase 6A)
A14A (p.Ala14Ala) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- gnomAD X-44873593-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 14.50
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available