A15T (p.Ala15Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A15T (p.Ala15Thr) 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 0.31 / 1. The record also includes published literature and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs2031064287
- ClinGen CA413020152
- ClinVar RCV003133840
- Ensembl rs2031064287
- Uncertain significance
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.73
- SIFT 0.01
- MutPred 0.39
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)