A12A (p.Ala12Ala) variant of COQ8A (Q8NI60)
A12A (p.Ala12Ala) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs763370071
- gnomAD 1-226961421-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 10.20
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available