V27A (p.Val27Ala) variant of F2 (Prothrombin)
V27A (p.Val27Ala) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V27A (p.Val27Ala) variant details
- p.Val27Ala
- gnomAD 11-46719702-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.76
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available