G51V (p.Gly51Val) variant of KDM6A (Lysine-specific demethylase 6A)
G51V (p.Gly51Val) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- rs1352040501
- ClinGen CA413020396
- ClinVar RCV003644129
- TOPMed rs1352040501
- Uncertain significance
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.29
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)