L39I (p.Leu39Ile) variant of CPS1 (P31327)
L39I (p.Leu39Ile) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L39I (p.Leu39Ile) variant details
- p.Leu39Ile
- TOPMed rs1242900445
- gnomAD rs1242900445
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.31
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available