T25I (p.Thr25Ile) variant of COQ8A (Q8NI60)
T25I (p.Thr25Ile) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- gnomAD rs1223242512
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available