P49A (p.Pro49Ala) variant of KMT2D (O14686)
P49A (p.Pro49Ala) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- ESP rs372067643
- ExAC rs372067643
- TOPMed rs372067643
- gnomAD rs372067643
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available