p.Pro35 Pro36insArgSerCysProProH variant of KDM6B (Lysine-specific demethylase 6B)
p.Pro35 Pro36insArgSerCysProProH in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro35 Pro36insArgSerCysProProH variant details
- gnomAD 17-7845639-A-AGCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 19.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available