R44C (p.Arg44Cys) variant of FLNC (Filamin-C)
R44C (p.Arg44Cys) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs2128932137
- ClinGen CA369215915
- ClinVar RCV006609153
- Ensembl rs2128932137
- Uncertain significance
- Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.53
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Distal myopathy with posterior leg and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)