P2P (p.Pro2Pro) variant of MPL (Thrombopoietin receptor)
P2P (p.Pro2Pro) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P2P (p.Pro2Pro) variant details
- p.Pro2Pro
- rs2153916091
- gnomAD 1-43337854-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 10.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.39
- Literature evidence available