K13E (p.Lys13Glu) variant of COQ8A (Q8NI60)
K13E (p.Lys13Glu) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- ExAC rs764577827
- gnomAD rs764577827
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available