P35S (p.Pro35Ser) variant of AGXT (P21549)
P35S (p.Pro35Ser) in AGXT (P21549) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- NCI-TCGA Cosmic COSV5675
- TOPMed rs2058975630
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.43
- ESM-1b 0.30
- AlphaMissense 0.08
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.582