C32C (p.Cys32Cys) variant of FLNB (Filamin-B)
C32C (p.Cys32Cys) in FLNB (Filamin-B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C32C (p.Cys32Cys) variant details
- p.Cys32Cys
- rs765325091
- gnomAD 3-58008660-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 15.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.151
- Literature evidence available