R35Q (p.Arg35Gln) variant of F2 (Prothrombin)
R35Q (p.Arg35Gln) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- rs1296934945
- cosmic curated COSV10966
- TOPMed rs1296934945
- gnomAD rs1296934945
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.21
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available