L45L (p.Leu45Leu) variant of SFTPC (Surfactant protein C)
L45L (p.Leu45Leu) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- rs1211620816
- gnomAD 8-22162666-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.082
- CADD 0.23
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available