F65I (p.Phe65Ile) variant of OTC (P00480)
F65I (p.Phe65Ile) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F65I (p.Phe65Ile) variant details
- p.Phe65Ile
- gnomAD X-38367406-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.31
- MetaLR 0.68
- MetaSVM -0.03
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Literature evidence available