Y73N (p.Tyr73Asn) variant of OTC (P00480)
Y73N (p.Tyr73Asn) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Y73N (p.Tyr73Asn) variant details
- p.Tyr73Asn
- gnomAD X-38369796-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.51
- MetaLR 0.87
- MetaSVM 0.66
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available