R40Q (p.Arg40Gln) variant of F2 (Prothrombin)
R40Q (p.Arg40Gln) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- ExAC rs762485669
- TOPMed rs762485669
- gnomAD rs762485669
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available