L18Q (p.Leu18Gln) variant of FGB (Fibrinogen beta chain)
L18Q (p.Leu18Gln) in FGB (Fibrinogen beta chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- gnomAD 4-154563071-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.24
- CADD 26.70
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available