P15A (p.Pro15Ala) variant of KMT2D (O14686)
P15A (p.Pro15Ala) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- TOPMed rs1002765819
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available