C46P (p.Cys46Pro) variant of FLNC (Filamin-C)
C46P (p.Cys46Pro) in FLNC (Filamin-C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C46P (p.Cys46Pro) variant details
- p.Cys46Pro
- gnomAD 7-128830772-GTGCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 33.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available