P35L (p.Pro35Leu) variant of AGXT (P21549)
P35L (p.Pro35Leu) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- ExAC rs779013628
- TOPMed rs779013628
- gnomAD rs779013628
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 22.90
- PolyPhen-2 0.77
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- AGXT complementation assay *1 B: score 0.582