T8N (p.Thr8Asn) variant of COQ8A (Q8NI60)
T8N (p.Thr8Asn) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- gnomAD 1-226961408-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.13
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available