W4R (p.Trp4Arg) variant of MPL (Thrombopoietin receptor)
W4R (p.Trp4Arg) 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; Essential thrombocythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W4R (p.Trp4Arg) variant details
- p.Trp4Arg
- rs752112087
- ClinGen CA806549
- NCI-TCGA Cosmic COSV6524
- cosmic curated COSV65244
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.63
- MetaLR 0.68
- MetaSVM 0.01
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 1.08