L9L (p.Leu9Leu) variant of SFTPC (Surfactant protein C)
L9L (p.Leu9Leu) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L9L (p.Leu9Leu) variant details
- p.Leu9Leu
- rs1827737458
- gnomAD 8-22161855-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 12.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available