R38* (p.Arg38Ter) variant of IFT172 (Q9UG01)
R38* (p.Arg38Ter) in IFT172 (Q9UG01) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R38* (p.Arg38Ter) variant details
- p.Arg38Ter
- rs139021548
- ClinGen CA204566
- ClinVar RCV000190597
- ClinVar RCV001387370
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available