P70R (p.Pro70Arg) variant of MPL (Thrombopoietin receptor)
P70R (p.Pro70Arg) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
P70R (p.Pro70Arg) variant details
- p.Pro70Arg
- rs2545673821
- ClinGen CA2580062786
- ClinVar RCV002852989
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available