A58E (p.Ala58Glu) variant of MPL (Thrombopoietin receptor)
A58E (p.Ala58Glu) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A58E (p.Ala58Glu) variant details
- p.Ala58Glu
- NCI-TCGA TCGA novel
- 1000Genomes rs6087
- ExAC rs6087
- TOPMed rs6087
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -0.94
- CADD 16.30
- PolyPhen-2 0.25
- SIFT 0.39
- EBI: Likely benign (in dbSNP:rs6087)
- UniProt: Likely benign (in dbSNP:rs6087)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available