S48P (p.Ser48Pro) variant of AGXT (P21549)
S48P (p.Ser48Pro) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S48P (p.Ser48Pro) variant details
- p.Ser48Pro
- gnomAD rs1279674854
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.793