R43Q (p.Arg43Gln) variant of MPL (Thrombopoietin receptor)
R43Q (p.Arg43Gln) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Inborn g. 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.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- rs147938568
- cosmic curated COSV65245
- NCI-TCGA Cosmic COSV6524
- ESP rs147938568
- Conflicting interpretations
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Inborn g
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.29
- MetaLR 0.31
- MetaSVM -0.65
- CADD 16.70
- PolyPhen-2 0.22
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- UniProt: Conflicting interpretations
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.575