A15D (p.Ala15Asp) variant of KDM6A (Lysine-specific demethylase 6A)
A15D (p.Ala15Asp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- gnomAD rs1212270608
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 25.90
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available