A17del (p.Ala17del) variant of KDM6A (Lysine-specific demethylase 6A)
A17del (p.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.
A17del (p.Ala17del) variant details
- rs1467702310
- gnomAD X-44873579-ACCG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 20.40
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available