S45C (p.Ser45Cys) variant of FLNB (Filamin-B)
S45C (p.Ser45Cys) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- gnomAD 3-58078498-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0878
- CADD 1.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.254
- Literature evidence available