A42V (p.Ala42Val) variant of COQ8A (Q8NI60)
A42V (p.Ala42Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- gnomAD 1-226961510-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.09
- CADD 20.00
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available