A76D (p.Ala76Asp) variant of MPL (Thrombopoietin receptor)
A76D (p.Ala76Asp) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A76D (p.Ala76Asp) variant details
- p.Ala76Asp
- gnomAD 1-43338556-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- MetaLR 0.17
- MetaSVM -0.99
- CADD 16.00
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available