C72* (p.Cys72Ter) variant of SFTPB (P07988)
C72* (p.Cys72Ter) in SFTPB (P07988) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
C72* (p.Cys72Ter) variant details
- p.Cys72Ter
- cosmic curated COSV10742
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 23.10
- Population evidence available
- Structural context available