G5R (p.Gly5Arg) variant of KDM6A (Lysine-specific demethylase 6A)
G5R (p.Gly5Arg) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- TOPMed rs1413921299
- gnomAD rs1413921299
- Uncertain significance
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 27.40
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available