A7L (p.Ala7Leu) variant of CPS1 (P31327)
A7L (p.Ala7Leu) in CPS1 (P31327) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A7L (p.Ala7Leu) variant details
- p.Ala7Leu
- gnomAD 2-210556750-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available