L14L (p.Leu14Leu) variant of AGXT (P21549)
L14L (p.Leu14Leu) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs2058975287
- gnomAD 2-240868905-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 9.47
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- AGXT complementation assay *2 b: score 0.985
- Literature evidence available