C203Y (p.Cys203Tyr) variant of FLNC (Filamin-C)
C203Y (p.Cys203Tyr) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nemaline myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C203Y (p.Cys203Tyr) variant details
- p.Cys203Tyr
- rs2536617485
- ClinVar RCV004587623
- Likely pathogenic
- Nemaline myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.83
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Nemaline myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available