L14P (p.Leu14Pro) variant of CPS1 (P31327)
L14P (p.Leu14Pro) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- ExAC rs765353730
- TOPMed rs765353730
- gnomAD rs765353730
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.70
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available