V53L (p.Val53Leu) variant of FLNC (Filamin-C)
V53L (p.Val53Leu) 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; Myofibrillar myopathy 5; Distal myopathy with po. 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.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- rs1452307781
- ClinGen CA369216122
- ClinVar RCV006624592
- TOPMed rs1452307781
- Uncertain significance
- Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.26
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)