A12D (p.Ala12Asp) variant of COQ8A (Q8NI60)
A12D (p.Ala12Asp) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- gnomAD 1-226961420-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available