P70Q (p.Pro70Gln) variant of MPL (Thrombopoietin receptor)
P70Q (p.Pro70Gln) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P70Q (p.Pro70Gln) variant details
- p.Pro70Gln
- gnomAD 1-43338228-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.05
- MetaLR 0.18
- MetaSVM -0.96
- CADD 13.10
- PolyPhen-2 0.03
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available