Y7D (p.Tyr7Asp) variant of FLNC (Filamin-C)
Y7D (p.Tyr7Asp) 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; Myofibrillar myopathy 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y7D (p.Tyr7Asp) variant details
- p.Tyr7Asp
- rs896068048
- ClinGen CA166206906
- ClinVar RCV002416389
- ClinVar RCV006608259
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.29
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)