T62R (p.Thr62Arg) variant of MPL (Thrombopoietin receptor)
T62R (p.Thr62Arg) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and structural context.
T62R (p.Thr62Arg) variant details
- p.Thr62Arg
- 1000Genomes rs201727975
- ESP rs201727975
- ExAC rs201727975
- TOPMed rs201727975
- Uncertain significance
- Missense
- MetaLR 0.23
- MetaSVM -0.88
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available