T42K (p.Thr42Lys) variant of KDM6A (Lysine-specific demethylase 6A)
T42K (p.Thr42Lys) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T42K (p.Thr42Lys) variant details
- p.Thr42Lys
- gnomAD X-44873676-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available