S23F (p.Ser23Phe) variant of FLNC (Filamin-C)
S23F (p.Ser23Phe) in FLNC (Filamin-C) 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 0.41 / 1. The record also includes population frequency data and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- NCI-TCGA TCGA novel
- TOPMed rs1807851030
- gnomAD rs1807851030
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.16
- CADD 24.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available