Y63* (p.Tyr63Ter) variant of MPL (Thrombopoietin receptor)
Y63* (p.Tyr63Ter) in MPL (Thrombopoietin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y63* (p.Tyr63Ter) variant details
- p.Tyr63Ter
- rs1373623383
- ClinGen CA339973030
- ClinVar RCV001174802
- ClinVar RCV001819878
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available