R62H (p.Arg62His) variant of FLNC (Filamin-C)
R62H (p.Arg62His) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R62H (p.Arg62His) variant details
- p.Arg62His
- rs1308771065
- ClinGen CA369216239
- ClinVar RCV002409466
- ClinVar RCV004777952
- Uncertain significance
- Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.27
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Distal myopathy with posterior leg and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)