S12S (p.Ser12Ser) variant of SFTPC (Surfactant protein C)
S12S (p.Ser12Ser) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs369413166
- gnomAD 8-22161864-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.09
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available