G54D (p.Gly54Asp) variant of FLNC (Filamin-C)
G54D (p.Gly54Asp) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- rs1032152678
- ClinGen CA166207044
- ClinVar RCV002393619
- ClinVar RCV006608588
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 5; Distal myopathy with posterio
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.10
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 5; Distal myopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)