M8V (p.Met8Val) variant of MPL (Thrombopoietin receptor)
M8V (p.Met8Val) 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.
M8V (p.Met8Val) variant details
- p.Met8Val
- rs572208458
- ClinGen CA806551
- ClinVar RCV001912713
- 1000Genomes rs572208458
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.22
- MetaLR 0.17
- MetaSVM -0.87
- CADD 4.34
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NAXI population (allele frequency 0.14)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.195