G57D (p.Gly57Asp) variant of SFTPC (Surfactant protein C)
G57D (p.Gly57Asp) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- gnomAD 8-22162701-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available