D16Y (p.Asp16Tyr) variant of FLNC (Filamin-C)
D16Y (p.Asp16Tyr) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 5; Dilated Cardiomyopathy, Dominant; Distal myopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D16Y (p.Asp16Tyr) variant details
- p.Asp16Tyr
- rs1807849615
- ClinGen CA369215494
- ClinVar RCV001045869
- Ensembl rs1807849615
- Uncertain significance
- Myofibrillar myopathy 5; Dilated Cardiomyopathy, Dominant; Distal myopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Dilated Cardiomyopathy, Dominant; Dista)
- 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)