T46P (p.Thr46Pro) variant of COQ8A (Q8NI60)
T46P (p.Thr46Pro) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T46P (p.Thr46Pro) variant details
- p.Thr46Pro
- gnomAD 1-226961521-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.31
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available