G21A (p.Gly21Ala) variant of KDM6B (Lysine-specific demethylase 6B)
G21A (p.Gly21Ala) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- ExAC rs764823980
- TOPMed rs764823980
- gnomAD rs764823980
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.04
- CADD 25.70
- PolyPhen-2 0.81
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available