A16P (p.Ala16Pro) variant of KMT2D (O14686)
A16P (p.Ala16Pro) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- gnomAD rs1330280764
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available