F48F (p.Phe48Phe) variant of OTC (P00480)
F48F (p.Phe48Phe) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
F48F (p.Phe48Phe) variant details
- p.Phe48Phe
- gnomAD X-38367357-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 9.52
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Literature evidence available