W14* (p.Trp14Ter) variant of FLNB (Filamin-B)
W14* (p.Trp14Ter) in FLNB (Filamin-B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W14* (p.Trp14Ter) variant details
- p.Trp14Ter
- TOPMed rs2097093758
- gnomAD rs2097093758
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 41.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.746