L7L (p.Leu7Leu) variant of AGXT (P21549)
L7L (p.Leu7Leu) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs1455078510
- gnomAD 2-240868886-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 3.44
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 0.747
- Literature evidence available