S33* (p.Ser33Ter) variant of MPL (Thrombopoietin receptor)
S33* (p.Ser33Ter) in MPL (Thrombopoietin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S33* (p.Ser33Ter) variant details
- p.Ser33Ter
- rs1228227826
- Ensembl rs1228227826
- ClinGen CA339972534
- ClinVar RCV001263971
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 28.50
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.891