P17T (p.Pro17Thr) variant of MPL (Thrombopoietin receptor)
P17T (p.Pro17Thr) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- gnomAD rs1647004869
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.22
- AlphaMissense 0.09
- MetaLR 0.24
- MetaSVM -0.79
- CADD 19.70
- PolyPhen-2 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.12