P17H (p.Pro17His) variant of AGXT (P21549)
P17H (p.Pro17His) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes experimental measurements and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- ExAC rs761064900
- TOPMed rs761064900
- gnomAD rs761064900
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- ESM-1b 1.00
- AlphaMissense 0.21
- Structural context available
- AGXT complementation assay *1 B: score 1.1