E66A (p.Glu66Ala) variant of FBN2 (Fibrillin-2)
E66A (p.Glu66Ala) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E66A (p.Glu66Ala) variant details
- p.Glu66Ala
- gnomAD rs1756883847
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.17
- CADD 21.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available