M38L (p.Met38Leu) variant of COQ8A (Q8NI60)
M38L (p.Met38Leu) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
M38L (p.Met38Leu) variant details
- p.Met38Leu
- ExAC rs762117943
- gnomAD rs762117943
- Missense
- Variant Prioritization Score for Impact Estimate 0.0769
- REVEL 0.08
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available