I46I (p.Ile46Ile) variant of SFTPC (Surfactant protein C)
I46I (p.Ile46Ile) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I46I (p.Ile46Ile) variant details
- p.Ile46Ile
- rs548523225
- gnomAD 8-22162669-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0831
- CADD 0.35
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Literature evidence available