C1153Y (p.Cys1153Tyr) variant of KDM6A (Lysine-specific demethylase 6A)
C1153Y (p.Cys1153Tyr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
C1153Y (p.Cys1153Tyr) variant details
- p.Cys1153Tyr
- rs1556350571
- ClinGen CA412804999
- cosmic curated COSV65047
- ClinVar RCV000656306
- Likely pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.99
- MetaLR 0.55
- MetaSVM 0.25
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Kabuki syndrome 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)