A32H (p.Ala32His) variant of MPL (Thrombopoietin receptor)
A32H (p.Ala32His) in MPL (Thrombopoietin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A32H (p.Ala32His) variant details
- p.Ala32His
- rs2153916214
- gnomAD 1-43338111-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 29.90
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.942
- Literature evidence available