A76T (p.Ala76Thr) variant of MPL (Thrombopoietin receptor)
A76T (p.Ala76Thr) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- gnomAD 1-43338555-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.04
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available