G28D (p.Gly28Asp) variant of FBN2 (Fibrillin-2)
G28D (p.Gly28Asp) 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 0.45 / 1. The record also includes population frequency data and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- rs1040280257
- ClinGen CA127059171
- ClinVar RCV003951576
- TOPMed rs1040280257
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available