L18L (p.Leu18Leu) variant of AGXT (P21549)
L18L (p.Leu18Leu) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs1057288575
- gnomAD 2-240868919-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0796
- CADD 0.90
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- AGXT complementation assay *1 B: score 0.749
- Literature evidence available