G28A (p.Gly28Ala) variant of FBN2 (Fibrillin-2)
G28A (p.Gly28Ala) 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 0.36 / 1. The record also includes population frequency data and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- TOPMed rs1040280257
- gnomAD rs1040280257
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.24
- CADD 20.00
- PolyPhen-2 0.03
- SIFT 0.85
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available