I37N (p.Ile37Asn) variant of AGXT (P21549)
I37N (p.Ile37Asn) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I37N (p.Ile37Asn) variant details
- p.Ile37Asn
- gnomAD 2-240868975-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 20.90
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 0.992
- Literature evidence available