G17A (p.Gly17Ala) variant of OTC (P00480)
G17A (p.Gly17Ala) 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.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- gnomAD X-38352746-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.31
- MetaLR 0.81
- MetaSVM 0.23
- CADD 4.07
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available