R46S (p.Arg46Ser) variant of KDM6A (Lysine-specific demethylase 6A)
R46S (p.Arg46Ser) 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.
R46S (p.Arg46Ser) variant details
- p.Arg46Ser
- gnomAD X-44873689-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available