G2W (p.Gly2Trp) variant of FBN2 (Fibrillin-2)
G2W (p.Gly2Trp) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G2W (p.Gly2Trp) variant details
- p.Gly2Trp
- ExAC rs770304941
- TOPMed rs770304941
- gnomAD rs770304941
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.59
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available