N34K (p.Asn34Lys) variant of FLNB (Filamin-B)
N34K (p.Asn34Lys) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- gnomAD 3-58008666-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.69
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.211
- Literature evidence available