N27S (p.Asn27Ser) variant of FLNB (Filamin-B)
N27S (p.Asn27Ser) in FLNB (Filamin-B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N27S (p.Asn27Ser) variant details
- p.Asn27Ser
- rs760976111
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99914
- Ensembl rs760976111
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.93
- CADD 29.20
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- 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 -0.482