R46R (p.Arg46Arg) variant of KDM6B (Lysine-specific demethylase 6B)
R46R (p.Arg46Arg) in KDM6B (Lysine-specific demethylase 6B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R46R (p.Arg46Arg) variant details
- p.Arg46Arg
- rs763262499
- gnomAD 17-7845872-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available