G131R (p.Gly131Arg) variant of MPL (Thrombopoietin receptor)
G131R (p.Gly131Arg) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital amegakaryocytic thrombocytopenia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G131R (p.Gly131Arg) variant details
- p.Gly131Arg
- ExAC rs775250202
- gnomAD rs775250202
- Likely pathogenic
- Congenital amegakaryocytic thrombocytopenia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.63
- MetaLR 0.65
- MetaSVM 0.27
- CADD 34.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital amegakaryocytic thrombocytopenia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available