H23Q (p.His23Gln) variant of F2 (Prothrombin)
H23Q (p.His23Gln) in F2 (Prothrombin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H23Q (p.His23Gln) variant details
- p.His23Gln
- TOPMed rs1207410654
- gnomAD rs1207410654
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.33
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available