I9T (p.Ile9Thr) variant of COQ8A (Q8NI60)
I9T (p.Ile9Thr) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I9T (p.Ile9Thr) variant details
- p.Ile9Thr
- gnomAD 1-226961411-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.40
- CADD 23.20
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available