I56S (p.Ile56Ser) variant of AGXT (P21549)
I56S (p.Ile56Ser) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I56S (p.Ile56Ser) variant details
- p.Ile56Ser
- ExAC rs180177180
- TOPMed rs180177180
- gnomAD rs180177180
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 31.00
- PolyPhen-2 0.79
- SIFT 0.02
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00015)
- Structural context available
- AGXT complementation assay *1 b: score 0.601