F5241L (p.Phe5241Leu) variant of KMT2D (O14686)
F5241L (p.Phe5241Leu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kabuki syndrome 1. The record also includes structural context.
F5241L (p.Phe5241Leu) variant details
- p.Phe5241Leu
- TOPMed rs1942580377
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available