E72G (p.Glu72Gly) variant of OTC (P00480)
E72G (p.Glu72Gly) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E72G (p.Glu72Gly) variant details
- p.Glu72Gly
- 1000Genomes rs753631467
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.79
- MetaLR 0.89
- MetaSVM 0.83
- CADD 28.50
- PolyPhen-2 0.68
- SIFT 0.06
- Most common in the 1KG:PJL population (allele frequency 0.0072)
- Structural context available