I4I (p.Ile4Ile) variant of CPS1 (P31327)
I4I (p.Ile4Ile) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I4I (p.Ile4Ile) variant details
- p.Ile4Ile
- rs768210605
- gnomAD 2-210556730-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 8.86
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available