A32T (p.Ala32Thr) variant of MPL (Thrombopoietin receptor)
A32T (p.Ala32Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs746914831
- ClinGen CA806578
- ClinVar RCV003807081
- ExAC rs746914831
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.49
- CADD 22.70
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.942