V2328M (p.Val2328Met) variant of FLNC (Filamin-C)
V2328M (p.Val2328Met) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
V2328M (p.Val2328Met) variant details
- p.Val2328Met
- rs2128939561
- ClinGen CA369214395
- ClinVar RCV006610893
- Ensembl rs2128939561
- Pathogenic
- Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.14
- MetaLR 0.70
- MetaSVM 0.37
- PolyPhen-2 0.98
- SIFT 0.22
- MutPred 0.55
- ClinVar: Pathogenic (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)