Q8A (p.Gln8Ala) variant of F2 (Prothrombin)
Q8A (p.Gln8Ala) in F2 (Prothrombin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q8A (p.Gln8Ala) variant details
- p.Gln8Ala
- gnomAD 11-46719255-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available