K38K (p.Lys38Lys) variant of OTC (P00480)
K38K (p.Lys38Lys) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K38K (p.Lys38Lys) variant details
- p.Lys38Lys
- rs1057522000
- gnomAD X-38367327-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 8.43
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available