L50L (p.Leu50Leu) variant of CPS1 (P31327)
L50L (p.Leu50Leu) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs182538050
- gnomAD 2-210573321-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 9.83
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Literature evidence available