P39T (p.Pro39Thr) variant of KDM6A (Lysine-specific demethylase 6A)
P39T (p.Pro39Thr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- gnomAD X-44873666-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 20.80
- PolyPhen-2 0.37
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available