E55Q (p.Glu55Gln) variant of FLNB (Filamin-B)
E55Q (p.Glu55Gln) in FLNB (Filamin-B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E55Q (p.Glu55Gln) variant details
- p.Glu55Gln
- rs768998920
- NCI-TCGA Cosmic COSV5590
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99913
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.354