P62R (p.Pro62Arg) variant of KMT2D (O14686)
P62R (p.Pro62Arg) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
P62R (p.Pro62Arg) variant details
- p.Pro62Arg
- ESP rs371342351
- ExAC rs371342351
- TOPMed rs371342351
- gnomAD rs371342351
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available