H17L (p.His17Leu) variant of FGB (Fibrinogen beta chain)
H17L (p.His17Leu) in FGB (Fibrinogen beta chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H17L (p.His17Leu) variant details
- p.His17Leu
- gnomAD 4-154563068-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.05
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available