L30L (p.Leu30Leu) variant of COQ8A (Q8NI60)
L30L (p.Leu30Leu) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs1331770829
- gnomAD 1-226961473-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.08
- Population evidence available
- Structural context available
- Literature evidence available