S5R (p.Ser5Arg) variant of FLNC (Filamin-C)
S5R (p.Ser5Arg) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs759632330
- ClinGen CA4473948
- ClinVar RCV002397288
- ClinVar RCV005627381
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Distal myopathy with posterior leg and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Distal myopathy with pos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian 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)