Y7* (p.Tyr7Ter) variant of FLNC (Filamin-C)
Y7* (p.Tyr7Ter) in FLNC (Filamin-C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y7* (p.Tyr7Ter) variant details
- p.Tyr7Ter
- ExAC rs201179596
- gnomAD rs201179596
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available