S48F (p.Ser48Phe) variant of AGXT (P21549)
S48F (p.Ser48Phe) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes experimental measurements and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- Ensembl rs1575707256
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- ESM-1b 0.00
- AlphaMissense 0.20
- Structural context available
- AGXT complementation assay *1 B: score 0.793