L26L (p.Leu26Leu) variant of AGXT (P21549)
L26L (p.Leu26Leu) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L26L (p.Leu26Leu) variant details
- p.Leu26Leu
- rs2058975534
- gnomAD 2-240868943-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 3.66
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- AGXT complementation assay *1 B: score 0.743
- Literature evidence available