D52H (p.Asp52His) variant of AGXT (P21549)
D52H (p.Asp52His) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D52H (p.Asp52His) variant details
- p.Asp52His
- gnomAD rs2058976103
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.49
- ESM-1b 0.27
- AlphaMissense 0.15
- CADD 23.20
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available
- AGXT complementation assay *2 B: score 1.05