E49K (p.Glu49Lys) variant of COQ8A (Q8NI60)
E49K (p.Glu49Lys) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- rs372935246
- ClinGen CA1424936
- ClinVar RCV002632223
- ESP rs372935246
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available