A32V (p.Ala32Val) variant of MPL (Thrombopoietin receptor)
A32V (p.Ala32Val) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MPL-related disorder; Congenital amegakaryocytic thrombocytopenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs886046348
- ClinGen CA10610273
- ClinVar RCV000304665
- ClinVar RCV004537669
- Uncertain significance
- MPL-related disorder; Congenital amegakaryocytic thrombocytopenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.30
- MetaLR 0.37
- MetaSVM -0.36
- CADD 23.10
- SIFT 0.01
- ClinVar: Uncertain significance (MPL-related disorder; Congenital amegakaryocytic thrombocytopeni)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.942