S31F (p.Ser31Phe) variant of AGXT (P21549)
S31F (p.Ser31Phe) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- gnomAD 2-240868957-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 0.961
- Literature evidence available