C28S (p.Cys28Ser) variant of SFTPC (Surfactant protein C)
C28S (p.Cys28Ser) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
C28S (p.Cys28Ser) variant details
- p.Cys28Ser
- TOPMed rs1458422311
- gnomAD rs1458422311
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 24.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available