A42S (p.Ala42Ser) variant of COQ8A (Q8NI60)
A42S (p.Ala42Ser) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- gnomAD 1-226961509-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.12
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available