p.Ala14 Ala17del variant of KDM6A (Lysine-specific demethylase 6A)
p.Ala14 Ala17del in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala14 Ala17del variant details
- rs749062014
- gnomAD X-44873579-ACCGCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 20.30
- Most common in the Middle Eastern population (allele frequency 0.00026)
- Structural context available
- Literature evidence available