L14F (p.Leu14Phe) variant of MPL (Thrombopoietin receptor)
L14F (p.Leu14Phe) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- TOPMed rs1557462648
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.14
- MetaLR 0.34
- MetaSVM -0.68
- CADD 15.50
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.916