S49F (p.Ser49Phe) variant of FBN2 (Fibrillin-2)
S49F (p.Ser49Phe) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- ExAC rs746057905
- gnomAD rs746057905
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.19
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available