N20K (p.Asn20Lys) variant of FLNB (Filamin-B)
N20K (p.Asn20Lys) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N20K (p.Asn20Lys) variant details
- p.Asn20Lys
- gnomAD 3-58008624-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.60
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.382
- Literature evidence available