A9P (p.Ala9Pro) variant of KDM6A (Lysine-specific demethylase 6A)
A9P (p.Ala9Pro) 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 0.35 / 1. The record also includes published literature and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- rs2146440966
- ClinGen CA413020117
- ClinVar RCV002297233
- Ensembl rs2146440966
- Uncertain significance
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.15
- MetaLR 0.14
- MetaSVM -0.91
- PolyPhen-2 0.75
- SIFT 0.00
- MutPred 0.37
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)