H4N (p.His4Asn) variant of AGXT (P21549)
H4N (p.His4Asn) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H4N (p.His4Asn) variant details
- p.His4Asn
- gnomAD 2-240868875-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 1.05
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 0.934
- Literature evidence available