Q33P (p.Gln33Pro) variant of F2 (Prothrombin)
Q33P (p.Gln33Pro) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q33P (p.Gln33Pro) variant details
- p.Gln33Pro
- rs1234951610
- ClinGen CA380260354
- ClinVar RCV000994613
- TOPMed rs1234951610
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.53
- CADD 23.20
- PolyPhen-2 0.42
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available