L58I (p.Leu58Ile) variant of SFTPC (Surfactant protein C)
L58I (p.Leu58Ile) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L58I (p.Leu58Ile) variant details
- p.Leu58Ile
- gnomAD 8-22162703-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available