H70P (p.His70Pro) variant of KDM6B (Lysine-specific demethylase 6B)
H70P (p.His70Pro) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H70P (p.His70Pro) variant details
- p.His70Pro
- ExAC rs753019722
- TOPMed rs753019722
- gnomAD rs753019722
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -0.99
- CADD 25.30
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available