G52G (p.Gly52Gly) variant of SFTPC (Surfactant protein C)
G52G (p.Gly52Gly) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G52G (p.Gly52Gly) variant details
- p.Gly52Gly
- rs1312942349
- gnomAD 8-22162687-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available