N32H (p.Asn32His) variant of AGXT (P21549)
N32H (p.Asn32His) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N32H (p.Asn32His) variant details
- p.Asn32His
- gnomAD 2-240868959-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 0.0885
- Literature evidence available