P75T (p.Pro75Thr) variant of OTC (P00480)
P75T (p.Pro75Thr) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P75T (p.Pro75Thr) variant details
- p.Pro75Thr
- gnomAD X-38369802-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.61
- MetaLR 0.92
- MetaSVM 0.91
- CADD 20.50
- PolyPhen-2 0.06
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available