E9V (p.Glu9Val) variant of KMT2D (O14686)
E9V (p.Glu9Val) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- Ensembl rs2120718422
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available