M38I (p.Met38Ile) variant of COQ8A (Q8NI60)
M38I (p.Met38Ile) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M38I (p.Met38Ile) variant details
- p.Met38Ile
- ESP rs369961952
- ExAC rs369961952
- TOPMed rs369961952
- gnomAD rs369961952
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.14
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available