H67N (p.His67Asn) variant of FLNB (Filamin-B)
H67N (p.His67Asn) in FLNB (Filamin-B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H67N (p.His67Asn) variant details
- p.His67Asn
- ExAC rs751371914
- gnomAD rs751371914
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.48
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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 -0.107