C8S (p.Cys8Ser) variant of FBN2 (Fibrillin-2)
C8S (p.Cys8Ser) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C8S (p.Cys8Ser) variant details
- p.Cys8Ser
- gnomAD rs1272430097
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.16
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available