L33P (p.Leu33Pro) variant of AGXT (P21549)
L33P (p.Leu33Pro) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- TOPMed rs2058975609
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.68
- ESM-1b 0.85
- AlphaMissense 0.37
- CADD 21.20
- PolyPhen-2 0.15
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 1.25