N32K (p.Asn32Lys) variant of AGXT (P21549)
N32K (p.Asn32Lys) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N32K (p.Asn32Lys) variant details
- p.Asn32Lys
- gnomAD 2-240868961-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 0.0885
- Literature evidence available