Y2563C (p.Tyr2563Cys) variant of FLNC (Filamin-C)
Y2563C (p.Tyr2563Cys) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Restrictive cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
Y2563C (p.Tyr2563Cys) variant details
- p.Tyr2563Cys
- rs1563005534
- ClinGen CA369219679
- ClinVar RCV000714272
- Ensembl rs1563005534
- Pathogenic
- Restrictive cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.77
- ClinVar: Pathogenic (Restrictive cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available