L55L (p.Leu55Leu) variant of SFTPC (Surfactant protein C)
L55L (p.Leu55Leu) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L55L (p.Leu55Leu) variant details
- p.Leu55Leu
- rs1827798275
- gnomAD 8-22162696-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 7.86
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available