C28C (p.Cys28Cys) variant of SFTPC (Surfactant protein C)
C28C (p.Cys28Cys) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C28C (p.Cys28Cys) variant details
- p.Cys28Cys
- gnomAD 8-22162615-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available