T44N (p.Thr44Asn) variant of OTC (P00480)
T44N (p.Thr44Asn) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T44N (p.Thr44Asn) variant details
- p.Thr44Asn
- gnomAD X-38367344-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.81
- MetaLR 0.96
- MetaSVM 1.11
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available