K23N (p.Lys23Asn) variant of KDM6A (Lysine-specific demethylase 6A)
K23N (p.Lys23Asn) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- rs2031074739
- ClinGen CA413020210
- ClinVar RCV003078992
- NCI-TCGA TCGA novel
- Uncertain significance
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.35
- MetaLR 0.30
- MetaSVM -0.56
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)