N10K (p.Asn10Lys) variant of OTC (P00480)
N10K (p.Asn10Lys) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N10K (p.Asn10Lys) variant details
- p.Asn10Lys
- gnomAD X-38352726-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.37
- MetaLR 0.81
- MetaSVM 0.35
- CADD 9.66
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available