N27H (p.Asn27His) variant of FLNB (Filamin-B)
N27H (p.Asn27His) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N27H (p.Asn27His) variant details
- p.Asn27His
- gnomAD 3-58008643-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.482
- Literature evidence available