S58R (p.Ser58Arg) variant of FLNB (Filamin-B)
S58R (p.Ser58Arg) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S58R (p.Ser58Arg) variant details
- p.Ser58Arg
- TOPMed rs2097093923
- gnomAD rs2097093923
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.87
- CADD 26.60
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score 0.0661