S45P (p.Ser45Pro) variant of COQ8A (Q8NI60)
S45P (p.Ser45Pro) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- TOPMed rs1347944525
- gnomAD rs1347944525
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.08
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available