N39S (p.Asn39Ser) variant of FLNB (Filamin-B)
N39S (p.Asn39Ser) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- gnomAD 3-58008680-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.50
- CADD 24.60
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.2
- Literature evidence available