I51T (p.Ile51Thr) variant of COQ8A (Q8NI60)
I51T (p.Ile51Thr) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I51T (p.Ile51Thr) variant details
- p.Ile51Thr
- TOPMed rs909089215
- gnomAD rs909089215
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available