G52E (p.Gly52Glu) variant of SFTPC (Surfactant protein C)
G52E (p.Gly52Glu) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- gnomAD 8-22162686-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available