V16F (p.Val16Phe) variant of COQ8A (Q8NI60)
V16F (p.Val16Phe) 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.
V16F (p.Val16Phe) variant details
- p.Val16Phe
- gnomAD 1-226961431-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available