W99* (p.Trp99Ter) variant of TECRL (Q5HYJ1)
W99* (p.Trp99Ter) in TECRL (Q5HYJ1) 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 0.70 / 1. The record also includes population frequency data and structural context.
W99* (p.Trp99Ter) variant details
- p.Trp99Ter
- ExAC rs765263983
- gnomAD rs765263983
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 43.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available