D66Y (p.Asp66Tyr) variant of FLNC (Filamin-C)
D66Y (p.Asp66Tyr) 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; Hypertrophic cardiomyopathy 26; Distal myopathy with p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
D66Y (p.Asp66Tyr) variant details
- p.Asp66Tyr
- rs1373245749
- ClinGen CA369216280
- ClinVar RCV001758758
- ClinVar RCV002421265
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 26; Distal myopathy with p
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.92
- CADD 32.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 26; Distal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)