N22K (p.Asn22Lys) variant of AGXT (P21549)
N22K (p.Asn22Lys) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
N22K (p.Asn22Lys) variant details
- p.Asn22Lys
- TOPMed rs2058975463
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available
- AGXT complementation assay *1 B: score 1.04