E17K (p.Glu17Lys) variant of FLNC (Filamin-C)
E17K (p.Glu17Lys) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- rs1807849793
- ClinGen CA369215505
- ClinVar RCV003455701
- ClinVar RCV006624439
- Uncertain significance
- Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.16
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.51
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)