C112* (p.Cys112Ter) variant of SFTPB (P07988)
C112* (p.Cys112Ter) in SFTPB (P07988) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C112* (p.Cys112Ter) variant details
- p.Cys112Ter
- gnomAD rs1298213949
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 33.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available