Q45* (p.Gln45Ter) variant of SFTPB (P07988)
Q45* (p.Gln45Ter) in SFTPB (P07988) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- rs1427648151
- NCI-TCGA Cosmic COSV6089
- cosmic curated COSV60894
- TOPMed rs1427648151
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -0.97
- CADD 36.00
- PolyPhen-2 0.82
- SIFT 0.10
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available