A48S (p.Ala48Ser) variant of KDM6A (Lysine-specific demethylase 6A)
A48S (p.Ala48Ser) 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 not provided. The record also includes structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- rs2519218021
- ClinGen CA413020377
- ClinVar RCV002286947
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available