L33L (p.Leu33Leu) variant of AGXT (P21549)
L33L (p.Leu33Leu) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L33L (p.Leu33Leu) variant details
- p.Leu33Leu
- rs1181815243
- gnomAD 2-240868964-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 4.54
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 1.25
- Literature evidence available