W25* (p.Trp25Ter) variant of SFTPB (P07988)
W25* (p.Trp25Ter) in SFTPB (P07988) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
W25* (p.Trp25Ter) variant details
- p.Trp25Ter
- ExAC rs763238120
- TOPMed rs763238120
- gnomAD rs763238120
- cosmic curated COSV10742
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 34.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available