T49A (p.Thr49Ala) variant of MPL (Thrombopoietin receptor)
T49A (p.Thr49Ala) 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; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- rs764333753
- ClinGen CA806587
- ClinVar RCV001310848
- ClinVar RCV005213520
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.71
- MetaLR 0.74
- MetaSVM 0.61
- CADD 25.20
- PolyPhen-2 1.00
- 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 0.00048)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.74