V2297M (p.Val2297Met) variant of FLNC (Filamin-C)
V2297M (p.Val2297Met) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Myofibrillar myopathy 5; Distal myopathy with posterior leg and an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V2297M (p.Val2297Met) variant details
- p.Val2297Met
- rs1420394583
- ClinGen CA369214072
- cosmic curated COSV57952
- ClinVar RCV001268782
- Pathogenic/Likely pathogenic
- not provided; Myofibrillar myopathy 5; Distal myopathy with posterior leg and an
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.37
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Myofibrillar myopathy 5; Distal myopathy with post)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)