G38S (p.Gly38Ser) variant of FLNB (Filamin-B)
G38S (p.Gly38Ser) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- gnomAD 3-58008676-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.43
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.406
- Literature evidence available