I50I (p.Ile50Ile) variant of SFTPC (Surfactant protein C)
I50I (p.Ile50Ile) 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.
I50I (p.Ile50Ile) variant details
- p.Ile50Ile
- rs768981838
- gnomAD 8-22162681-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.49
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available