E78G (p.Glu78Gly) variant of FLNB (Filamin-B)
E78G (p.Glu78Gly) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; FLNB-Related Spectrum Disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E78G (p.Glu78Gly) variant details
- p.Glu78Gly
- rs756221503
- ClinGen CA2467477
- ClinVar RCV000325786
- ClinVar RCV002520164
- Uncertain significance
- not provided; FLNB-Related Spectrum Disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; FLNB-Related Spectrum Disorders)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.385