P136H (p.Pro136His) variant of MPL (Thrombopoietin receptor)
P136H (p.Pro136His) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombocythemia 2; Congenital amegakaryocytic thrombocytopenia 1; Primary myelof. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P136H (p.Pro136His) variant details
- p.Pro136His
- rs764904424
- ClinGen CA806671
- ClinVar RCV001891969
- ClinVar RCV005016728
- Likely pathogenic
- Thrombocythemia 2; Congenital amegakaryocytic thrombocytopenia 1; Primary myelof
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.81
- MetaLR 0.92
- MetaSVM 1.06
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Thrombocythemia 2; Congenital amegakaryocytic thrombocytopenia 1)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available