S45G (p.Ser45Gly) variant of FLNB (Filamin-B)
S45G (p.Ser45Gly) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S45G (p.Ser45Gly) variant details
- p.Ser45Gly
- gnomAD 3-58008697-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.254
- Literature evidence available