L9* (p.Leu9Ter) variant of SFTPC (Surfactant protein C)
L9* (p.Leu9Ter) in SFTPC (Surfactant protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L9* (p.Leu9Ter) variant details
- p.Leu9Ter
- rs1191931272
- gnomAD 8-22161851-TC-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 24.00
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Literature evidence available