G56C (p.Gly56Cys) variant of FBN2 (Fibrillin-2)
G56C (p.Gly56Cys) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G56C (p.Gly56Cys) variant details
- p.Gly56Cys
- gnomAD rs1286855209
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.39
- CADD 23.00
- PolyPhen-2 0.36
- SIFT 0.00
- Population evidence available
- Structural context available