S48S (p.Ser48Ser) variant of AGXT (P21549)
S48S (p.Ser48Ser) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- rs776929752
- gnomAD 2-240869009-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 6.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- AGXT complementation assay *1 B: score 0.793
- Literature evidence available