C8F (p.Cys8Phe) variant of FBN2 (Fibrillin-2)
C8F (p.Cys8Phe) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C8F (p.Cys8Phe) variant details
- p.Cys8Phe
- Ensembl rs970099264
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available