I7T (p.Ile7Thr) variant of OTC (P00480)
I7T (p.Ile7Thr) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- TOPMed rs1311686045
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.41
- MetaLR 0.80
- MetaSVM 0.34
- CADD 9.09
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available