P39A (p.Pro39Ala) variant of KDM6A (Lysine-specific demethylase 6A)
P39A (p.Pro39Ala) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- gnomAD X-44873666-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 19.20
- PolyPhen-2 0.17
- SIFT 0.49
- Most common in the Middle Eastern population (allele frequency 0.00027)
- Structural context available
- Literature evidence available