V82E (p.Val82Glu) variant of FBN2 (Fibrillin-2)
V82E (p.Val82Glu) 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 0.51 / 1. The record also includes population frequency data and structural context.
V82E (p.Val82Glu) variant details
- p.Val82Glu
- TOPMed rs1235527803
- gnomAD rs1235527803
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available