C12C (p.Cys12Cys) variant of MPL (Thrombopoietin receptor)
C12C (p.Cys12Cys) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C12C (p.Cys12Cys) variant details
- p.Cys12Cys
- rs2153916106
- gnomAD 1-43337884-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 10.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.908
- Literature evidence available