T8I (p.Thr8Ile) variant of COQ8A (Q8NI60)
T8I (p.Thr8Ile) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- gnomAD 1-226961408-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.17
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available