C28* (p.Cys28Ter) variant of SFTPC (Surfactant protein C)
C28* (p.Cys28Ter) in SFTPC (Surfactant protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C28* (p.Cys28Ter) variant details
- p.Cys28Ter
- gnomAD 8-22162615-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available