A7D (p.Ala7Asp) variant of KMT2D (O14686)
A7D (p.Ala7Asp) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- Ensembl rs2120718503
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available