F41L (p.Phe41Leu) variant of MPL (Thrombopoietin receptor)
F41L (p.Phe41Leu) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar 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 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F41L (p.Phe41Leu) variant details
- p.Phe41Leu
- ExAC rs769423189
- gnomAD rs769423189
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.75
- MetaLR 0.77
- MetaSVM 0.66
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.48