A2A (p.Ala2Ala) variant of AGXT (P21549)
A2A (p.Ala2Ala) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1419329633
- gnomAD 2-240868871-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 5.23
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 1.28
- Literature evidence available