S45N (p.Ser45Asn) variant of FLNB (Filamin-B)
S45N (p.Ser45Asn) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S45N (p.Ser45Asn) variant details
- p.Ser45Asn
- Ensembl rs2097093883
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.62
- CADD 28.50
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.254