K54N (p.Lys54Asn) variant of OTC (P00480)
K54N (p.Lys54Asn) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K54N (p.Lys54Asn) variant details
- p.Lys54Asn
- gnomAD X-38367375-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.36
- MetaLR 0.83
- MetaSVM 0.45
- CADD 17.50
- PolyPhen-2 0.14
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available