Q55Q (p.Gln55Gln) variant of AGXT (P21549)
Q55Q (p.Gln55Gln) in AGXT (P21549) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q55Q (p.Gln55Gln) variant details
- p.Gln55Gln
- gnomAD 2-240869030-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 23.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.957
- Literature evidence available