D12H (p.Asp12His) variant of KMT2D (O14686)
D12H (p.Asp12His) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D12H (p.Asp12His) variant details
- p.Asp12His
- Ensembl rs2120718350
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available