F20L (p.Phe20Leu) variant of CPS1 (P31327)
F20L (p.Phe20Leu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F20L (p.Phe20Leu) variant details
- p.Phe20Leu
- TOPMed rs1391034796
- gnomAD rs1391034796
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.35
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available