P17S (p.Pro17Ser) variant of MPL (Thrombopoietin receptor)
P17S (p.Pro17Ser) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital amegakaryocytic thrombocytopenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes experimental measurements and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs1647004869
- ClinGen CA339972099
- cosmic curated COSV10529
- ClinVar RCV001102211
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.09
- MetaLR 0.24
- MetaSVM -0.79
- PolyPhen-2 0.02
- SIFT 0.25
- EVE 0.13
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.12