S145* (p.Ser145Ter) variant of IFT172 (Q9UG01)
S145* (p.Ser145Ter) in IFT172 (Q9UG01) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
S145* (p.Ser145Ter) variant details
- p.Ser145Ter
- gnomAD rs1440225222
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available