L12I (p.Leu12Ile) variant of FGB (Fibrinogen beta chain)
L12I (p.Leu12Ile) in FGB (Fibrinogen beta chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD 4-154563052-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- CADD 6.98
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available