K55Q (p.Lys55Gln) variant of FLNC (Filamin-C)
K55Q (p.Lys55Gln) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Myofibrillar myopathy 5; Distal myopathy with posterio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K55Q (p.Lys55Gln) variant details
- p.Lys55Gln
- rs769870285
- ClinGen CA4473965
- ClinVar RCV004044266
- ClinVar RCV006610737
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 5; Distal myopathy with posterio
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.23
- CADD 25.10
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 5; Distal myopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)