K57N (p.Lys57Asn) variant of COQ8A (Q8NI60)
K57N (p.Lys57Asn) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K57N (p.Lys57Asn) variant details
- p.Lys57Asn
- 1000Genomes rs200123840
- ExAC rs200123840
- gnomAD rs200123840
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.06
- CADD 6.28
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available