R5439P (p.Arg5439Pro) variant of KMT2D (O14686)
R5439P (p.Arg5439Pro) in KMT2D (O14686) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Kabuki syndrome 1. The record also includes structural context.
R5439P (p.Arg5439Pro) variant details
- p.Arg5439Pro
- TOPMed rs1942384389
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- UniProt: Likely pathogenic
- Structural context available