G21D (p.Gly21Asp) variant of KDM6B (Lysine-specific demethylase 6B)
G21D (p.Gly21Asp) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- rs764823980
- ClinGen CA397910078
- ClinVar RCV003885985
- ExAC rs764823980
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -0.97
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available