V11W (p.Val11Trp) variant of COQ8A (Q8NI60)
V11W (p.Val11Trp) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V11W (p.Val11Trp) variant details
- p.Val11Trp
- gnomAD 1-226961414-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available