G6D (p.Gly6Asp) variant of FLNC (Filamin-C)
G6D (p.Gly6Asp) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- rs1234560249
- ClinGen CA369215407
- ClinVar RCV004511028
- ClinVar RCV006613294
- Conflicting interpretations
- Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.70
- PolyPhen-2 0.00
- SIFT 0.16
- MutPred 0.15
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Distal myopathy with posterior leg and)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)