T44I (p.Thr44Ile) variant of MPL (Thrombopoietin receptor)
T44I (p.Thr44Ile) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia; MPL-rela. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- rs772445486
- ClinGen CA806584
- ClinVar RCV002264883
- ClinVar RCV004534016
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia; MPL-rela
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.43
- MetaLR 0.42
- MetaSVM -0.51
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- TpoR activation by low dosage of lusutrombopag: score 1.33