G19C (p.Gly19Cys) variant of KDM6A (Lysine-specific demethylase 6A)
G19C (p.Gly19Cys) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- gnomAD X-44873606-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available