N33S (p.Asn33Ser) variant of OTC (P00480)
N33S (p.Asn33Ser) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- gnomAD X-38367311-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.25
- MetaLR 0.78
- MetaSVM 0.15
- CADD 8.00
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available