A13A (p.Ala13Ala) variant of AGXT (P21549)
A13A (p.Ala13Ala) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs530836808
- gnomAD 2-240868904-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.87
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- AGXT complementation assay *2 B: score 1.14
- Literature evidence available