E28V (p.Glu28Val) variant of FLNB (Filamin-B)
E28V (p.Glu28Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- rs1428809108
- ClinGen CA353412955
- ClinVar RCV003144015
- TOPMed rs1428809108
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.407