L27Q (p.Leu27Gln) variant of FGB (Fibrinogen beta chain)
L27Q (p.Leu27Gln) in FGB (Fibrinogen beta chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L27Q (p.Leu27Gln) variant details
- p.Leu27Gln
- gnomAD 4-154563098-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- CADD 16.00
- PolyPhen-2 0.15
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available