G1424V (p.Gly1424Val) variant of FLNC (Filamin-C)
G1424V (p.Gly1424Val) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.88 / 1. The record also includes population frequency data and structural context.
G1424V (p.Gly1424Val) variant details
- p.Gly1424Val
- rs372668981
- cosmic curated COSV10036
- ESP rs372668981
- ExAC rs372668981
- Likely pathogenic
- Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 29.10
- ClinVar: Likely pathogenic (Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available