I48S (p.Ile48Ser) variant of CPS1 (P31327)
I48S (p.Ile48Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I48S (p.Ile48Ser) variant details
- p.Ile48Ser
- gnomAD 2-210573314-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.91
- CADD 24.90
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available