E11G (p.Glu11Gly) variant of SFTPC (Surfactant protein C)
E11G (p.Glu11Gly) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- gnomAD 8-22161860-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available