D81E (p.Asp81Glu) variant of FBN2 (Fibrillin-2)
D81E (p.Asp81Glu) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- TOPMed rs1048690556
- gnomAD rs1048690556
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.10
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available