I38I (p.Ile38Ile) variant of SFTPC (Surfactant protein C)
I38I (p.Ile38Ile) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I38I (p.Ile38Ile) variant details
- p.Ile38Ile
- rs375940265
- gnomAD 8-22162645-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 10.50
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Literature evidence available