Q64* (p.Gln64Ter) variant of MPL (Thrombopoietin receptor)
Q64* (p.Gln64Ter) 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 0.75 / 1. The record also includes population frequency data and structural context.
Q64* (p.Gln64Ter) variant details
- p.Gln64Ter
- rs2153916273
- ClinGen CA339973040
- ClinVar RCV002002275
- NCI-TCGA TCGA novel
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available