L31P (p.Leu31Pro) variant of MPL (Thrombopoietin receptor)
L31P (p.Leu31Pro) 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; Thrombocythemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes experimental measurements and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- rs878854771
- ClinGen CA10581793
- ClinVar RCV000228735
- Ensembl rs878854771
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Thrombocythemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.13
- MetaLR 0.34
- MetaSVM -0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.36
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Thrombocythemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- TpoR activation by low dosage of lusutrombopag: score 1.01