K26E (p.Lys26Glu) variant of FLNC (Filamin-C)
K26E (p.Lys26Glu) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Distal myopathy with posterior leg and anterior hand involvement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K26E (p.Lys26Glu) variant details
- p.Lys26Glu
- rs1562988843
- ClinGen CA369215620
- ClinVar RCV000689852
- ClinVar RCV003163138
- Uncertain significance
- not provided; Distal myopathy with posterior leg and anterior hand involvement
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.30
- CADD 32.00
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Distal myopathy with posterior leg and anterior ha)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)