I20V (p.Ile20Val) variant of AGXT (P21549)
I20V (p.Ile20Val) 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.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- TOPMed rs1400902861
- gnomAD rs1400902861
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available
- AGXT complementation assay *1 B: score 0.795