P75P (p.Pro75Pro) variant of OTC (P00480)
P75P (p.Pro75Pro) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P75P (p.Pro75Pro) variant details
- p.Pro75Pro
- rs754702815
- gnomAD X-38369804-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available