S45F (p.Ser45Phe) variant of COQ8A (Q8NI60)
S45F (p.Ser45Phe) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- gnomAD rs1252513816
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.20
- CADD 23.50
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available