L1200F (p.Leu1200Phe) variant of KDM6A (Lysine-specific demethylase 6A)
L1200F (p.Leu1200Phe) 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 0.49 / 1. The record also includes published literature and structural context.
L1200F (p.Leu1200Phe) variant details
- p.Leu1200Phe
- rs1060499665
- ClinGen CA16609406
- cosmic curated COSV65047
- ClinVar RCV000449529
- Likely pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.88
- MetaLR 0.36
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Kabuki syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)