C27C (p.Cys27Cys) variant of OTC (P00480)
C27C (p.Cys27Cys) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C27C (p.Cys27Cys) variant details
- p.Cys27Cys
- rs993705802
- gnomAD X-38367294-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 10.30
- Population evidence available
- Structural context available
- Literature evidence available