L38P (p.Leu38Pro) variant of CPS1 (P31327)
L38P (p.Leu38Pro) in CPS1 (P31327) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L38P (p.Leu38Pro) variant details
- p.Leu38Pro
- gnomAD 2-210556845-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available