I4M (p.Ile4Met) variant of COQ8A (Q8NI60)
I4M (p.Ile4Met) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I4M (p.Ile4Met) variant details
- p.Ile4Met
- Ensembl rs999819239
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.14
- CADD 3.72
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available