S3P (p.Ser3Pro) variant of AGXT (P21549)
S3P (p.Ser3Pro) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- Ensembl rs2058974789
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available
- AGXT complementation assay *1 b: score 1.27