K54K (p.Lys54Lys) variant of OTC (P00480)
K54K (p.Lys54Lys) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K54K (p.Lys54Lys) variant details
- p.Lys54Lys
- rs2147323601
- gnomAD X-38367375-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 9.12
- Population evidence available
- Structural context available
- Literature evidence available