C69* (p.Cys69Ter) variant of SFTPB (P07988)
C69* (p.Cys69Ter) 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.
C69* (p.Cys69Ter) variant details
- p.Cys69Ter
- TOPMed rs1409485997
- gnomAD rs1409485997
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available