Q44Q (p.Gln44Gln) variant of AGXT (P21549)
Q44Q (p.Gln44Gln) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q44Q (p.Gln44Gln) variant details
- p.Gln44Gln
- rs1443921633
- gnomAD 2-240868997-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 2.51
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00014)
- Structural context available
- AGXT complementation assay *1 B: score 0.573
- Literature evidence available