R62S (p.Arg62Ser) variant of FLNC (Filamin-C)
R62S (p.Arg62Ser) 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; Distal myopathy with posterior leg and anterior hand i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
R62S (p.Arg62Ser) variant details
- p.Arg62Ser
- rs774688396
- ClinGen CA4473969
- ClinVar RCV003177291
- ClinVar RCV006630908
- Uncertain significance
- Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.42
- MetaLR 0.48
- MetaSVM -0.14
- PolyPhen-2 0.02
- SIFT 0.13
- EVE 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype; Distal myopathy with posterior leg and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)