P59S (p.Pro59Ser) variant of MPL (Thrombopoietin receptor)
P59S (p.Pro59Ser) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- TOPMed rs543174329
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- MetaLR 0.40
- MetaSVM -0.49
- CADD 22.00
- SIFT 0.08
- Most common in the HGDP:MAYA population (allele frequency 0.053)
- Structural context available