R71R (p.Arg71Arg) variant of MPL (Thrombopoietin receptor)
R71R (p.Arg71Arg) in MPL (Thrombopoietin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R71R (p.Arg71Arg) variant details
- p.Arg71Arg
- rs780738649
- gnomAD 1-43338230-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.15
- MetaLR 0.07
- MetaSVM -1.03
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available