L54S (p.Leu54Ser) variant of FLNB (Filamin-B)

Name: FLNB L54S (p.Leu54Ser) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

L54S (p.Leu54Ser) in FLNB (Filamin-B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.

L54S (p.Leu54Ser) variant details

p.Leu54Ser
gnomAD 3-58008722-TG-T
Frameshift
Variant Prioritization Score for Impact Estimate 0.647
CADD 27.90
Population evidence available
Structural context available
FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.252
Literature evidence available