N4S (p.Asn4Ser) variant of FLNC (Filamin-C)
N4S (p.Asn4Ser) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant; Myofibrillar m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- rs2536604664
- ClinGen CA369215383
- ClinVar RCV003791496
- Uncertain significance
- Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant; Myofibrillar m
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.18
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant)
- 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)