T49N (p.Thr49Asn) variant of OTC (P00480)
T49N (p.Thr49Asn) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T49N (p.Thr49Asn) variant details
- p.Thr49Asn
- gnomAD X-38367359-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.50
- MetaLR 0.91
- MetaSVM 0.91
- CADD 17.70
- PolyPhen-2 0.02
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available