K38M (p.Lys38Met) variant of OTC (P00480)
K38M (p.Lys38Met) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K38M (p.Lys38Met) variant details
- p.Lys38Met
- gnomAD X-38367326-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.75
- MetaLR 0.89
- MetaSVM 1.02
- CADD 25.10
- PolyPhen-2 0.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available