L43L (p.Leu43Leu) variant of AGXT (P21549)
L43L (p.Leu43Leu) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- gnomAD 2-240868994-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 2.68
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- AGXT complementation assay *1 B: score 0.693
- Literature evidence available