E65D (p.Glu65Asp) variant of FBN2 (Fibrillin-2)
E65D (p.Glu65Asp) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E65D (p.Glu65Asp) variant details
- p.Glu65Asp
- ExAC rs750055830
- TOPMed rs750055830
- gnomAD rs750055830
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.16
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.61
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available