F42C (p.Phe42Cys) variant of FLNC (Filamin-C)
F42C (p.Phe42Cys) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Distal myopathy with posterior leg and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
F42C (p.Phe42Cys) variant details
- p.Phe42Cys
- rs777706683
- ClinGen CA369215877
- ClinVar RCV002307617
- ClinVar RCV002424820
- Uncertain significance
- Cardiovascular phenotype; not provided; Distal myopathy with posterior leg and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Distal myopathy with pos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)