Q65* (p.Gln65Ter) variant of AGXT (P21549)
Q65* (p.Gln65Ter) in AGXT (P21549) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q65* (p.Gln65Ter) variant details
- p.Gln65Ter
- gnomAD 2-240869197-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 39.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.305
- Literature evidence available