F68S (p.Phe68Ser) variant of AGXT (P21549)
F68S (p.Phe68Ser) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements and structural context.
F68S (p.Phe68Ser) variant details
- p.Phe68Ser
- rs2106427539
- ClinGen CA351313427
- ClinVar RCV001816298
- Ensembl rs2106427539
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.85
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- AGXT complementation assay *1 B: score 0.707