D41D (p.Asp41Asp) variant of OTC (P00480)
D41D (p.Asp41Asp) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D41D (p.Asp41Asp) variant details
- p.Asp41Asp
- rs2068301552
- gnomAD X-38367336-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 6.82
- Population evidence available
- Structural context available
- Literature evidence available