K38R (p.Lys38Arg) variant of OTC (P00480)
K38R (p.Lys38Arg) in OTC (P00480) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K38R (p.Lys38Arg) variant details
- p.Lys38Arg
- gnomAD X-38367324-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available