A12G (p.Ala12Gly) variant of KDM6A (Lysine-specific demethylase 6A)
A12G (p.Ala12Gly) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- gnomAD X-44873586-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available