W52* (p.Trp52Ter) variant of MPL (Thrombopoietin receptor)
W52* (p.Trp52Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
W52* (p.Trp52Ter) variant details
- p.Trp52Ter
- rs2545673744
- cosmic curated COSV10529
- NCI-TCGA TCGA novel
- ClinGen CA339972846
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available