p.Glu55 Leu57del variant of FLNB (Filamin-B)
p.Glu55 Leu57del in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Glu55 Leu57del variant details
- rs2097093907
- gnomAD 3-58008721-CTGCTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.354
- Literature evidence available