E48K (p.Glu48Lys) variant of FLNC (Filamin-C)
E48K (p.Glu48Lys) 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 0.81 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs1258983653
- NCI-TCGA Cosmic COSV5796
- cosmic curated COSV57965
- gnomAD rs1258983653
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.81
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available