L15L (p.Leu15Leu) variant of AGXT (P21549)
L15L (p.Leu15Leu) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L15L (p.Leu15Leu) variant details
- p.Leu15Leu
- rs1176113554
- gnomAD 2-240868910-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.946
- Literature evidence available