G6R (p.Gly6Arg) variant of FLNC (Filamin-C)
G6R (p.Gly6Arg) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Distal myopathy with posterior leg and anterior hand involvement; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs1284761356
- ClinGen CA369215405
- ClinVar RCV006607716
- TOPMed rs1284761356
- Uncertain significance
- Distal myopathy with posterior leg and anterior hand involvement; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.22
- MetaLR 0.45
- MetaSVM -0.56
- PolyPhen-2 0.01
- SIFT 0.03
- MutPred 0.24
- ClinVar: Uncertain significance (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)