S42S (p.Ser42Ser) variant of MPL (Thrombopoietin receptor)
S42S (p.Ser42Ser) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S42S (p.Ser42Ser) variant details
- p.Ser42Ser
- rs1647006574
- gnomAD 1-43338145-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 9.65
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.819
- Literature evidence available