D52D (p.Asp52Asp) variant of AGXT (P21549)
D52D (p.Asp52Asp) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D52D (p.Asp52Asp) variant details
- p.Asp52Asp
- rs765607242
- gnomAD 2-240869021-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 6.67
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available
- AGXT complementation assay *2 B: score 1.05
- Literature evidence available