G54V (p.Gly54Val) variant of FLNC (Filamin-C)
G54V (p.Gly54Val) 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; Distal myopathy with po. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- rs1032152678
- ClinGen CA369216153
- ClinVar RCV006608476
- TOPMed rs1032152678
- Uncertain significance
- Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.24
- CADD 24.60
- PolyPhen-2 0.43
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)