A61A (p.Ala61Ala) variant of OTC (P00480)
A61A (p.Ala61Ala) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A61A (p.Ala61Ala) variant details
- p.Ala61Ala
- gnomAD X-38367396-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 12.10
- Population evidence available
- Structural context available
- Literature evidence available