D66A (p.Asp66Ala) variant of FLNC (Filamin-C)
D66A (p.Asp66Ala) 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 0.74 / 1. The record also includes published literature and structural context.
D66A (p.Asp66Ala) variant details
- p.Asp66Ala
- rs2128932174
- ClinGen CA369216284
- ClinVar RCV006624596
- Ensembl rs2128932174
- Uncertain significance
- Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.97
- MetaLR 0.73
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)