Q78R (p.Gln78Arg) variant of OTC (P00480)
Q78R (p.Gln78Arg) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q78R (p.Gln78Arg) variant details
- p.Gln78Arg
- gnomAD X-38369812-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.58
- MetaLR 0.90
- MetaSVM 0.95
- CADD 23.40
- PolyPhen-2 0.62
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available