L137* (p.Leu137Ter) variant of IFT172 (Q9UG01)
L137* (p.Leu137Ter) in IFT172 (Q9UG01) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L137* (p.Leu137Ter) variant details
- p.Leu137Ter
- TOPMed rs1479123351
- gnomAD rs1479123351
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available