A40A (p.Ala40Ala) variant of AGXT (P21549)
A40A (p.Ala40Ala) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs1333685290
- gnomAD 2-240868985-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0807
- CADD 0.13
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- AGXT complementation assay *1 B: score 0.637
- Literature evidence available