G13R (p.Gly13Arg) variant of FLNC (Filamin-C)
G13R (p.Gly13Arg) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs760318519
- ClinGen CA369215471
- ClinVar RCV006609157
- ExAC rs760318519
- Uncertain significance
- Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.21
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Distal myopathy with posterior leg and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)