L21L (p.Leu21Leu) variant of ASS1 (Argininosuccinate synthase)
L21L (p.Leu21Leu) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L21L (p.Leu21Leu) variant details
- p.Leu21Leu
- rs774476997
- gnomAD 9-130452291-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.87
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available