R46W (p.Arg46Trp) variant of KDM6A (Lysine-specific demethylase 6A)
R46W (p.Arg46Trp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- gnomAD rs1215951155
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available