D58D (p.Asp58Asp) variant of AGXT (P21549)
D58D (p.Asp58Asp) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D58D (p.Asp58Asp) variant details
- p.Asp58Asp
- rs761756536
- gnomAD 2-240869178-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0857
- CADD 0.72
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available
- AGXT complementation assay *2 B: score 1.33
- Literature evidence available