A76A (p.Ala76Ala) variant of MPL (Thrombopoietin receptor)
A76A (p.Ala76Ala) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A76A (p.Ala76Ala) variant details
- p.Ala76Ala
- rs1398497408
- gnomAD 1-43338557-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 8.54
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available