K15E (p.Lys15Glu) variant of CPS1 (P31327)
K15E (p.Lys15Glu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- TOPMed rs1178139060
- gnomAD rs1178139060
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.54
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available