L54L (p.Leu54Leu) variant of SFTPC (Surfactant protein C)
L54L (p.Leu54Leu) 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.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- rs1285055943
- gnomAD 8-22162691-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available