A9V (p.Ala9Val) variant of KDM6A (Lysine-specific demethylase 6A)
A9V (p.Ala9Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD X-44873577-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 23.70
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available