W9* (p.Trp9Ter) variant of SFTPB (P07988)
W9* (p.Trp9Ter) in SFTPB (P07988) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
W9* (p.Trp9Ter) variant details
- p.Trp9Ter
- TOPMed rs1226457777
- gnomAD rs1226457777
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 35.00
- Population evidence available
- Structural context available