G51E (p.Gly51Glu) variant of KDM6A (Lysine-specific demethylase 6A)
G51E (p.Gly51Glu) 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 not provided; Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- cosmic curated COSV10093
- TOPMed rs1352040501
- Uncertain significance
- not provided; Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.29
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.5e-05)
- Structural context available