F18L (p.Phe18Leu) variant of KDM6A (Lysine-specific demethylase 6A)
F18L (p.Phe18Leu) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- rs2031069174
- ClinGen CA413020174
- ClinVar RCV003853854
- TOPMed rs2031069174
- Uncertain significance
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)