D58G (p.Asp58Gly) variant of AGXT (P21549)
D58G (p.Asp58Gly) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D58G (p.Asp58Gly) variant details
- p.Asp58Gly
- gnomAD rs1373914192
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 25.00
- Most common in the East Asian population (allele frequency 0.00021)
- Structural context available
- AGXT complementation assay *2 B: score 1.33