I48L (p.Ile48Leu) variant of CPS1 (P31327)
I48L (p.Ile48Leu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I48L (p.Ile48Leu) variant details
- p.Ile48Leu
- Ensembl rs1574540076
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.24
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available